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NM_130837.3(OPA1):c.106G>C (p.Val36Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 30, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003332866.1

Allele description [Variation Report for NM_130837.3(OPA1):c.106G>C (p.Val36Leu)]

NM_130837.3(OPA1):c.106G>C (p.Val36Leu)

Gene:
OPA1:OPA1 mitochondrial dynamin like GTPase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q29
Genomic location:
Preferred name:
NM_130837.3(OPA1):c.106G>C (p.Val36Leu)
HGVS:
  • NC_000003.12:g.193614796G>C
  • NG_011605.1:g.26653G>C
  • NM_001354663.2:c.-267G>C
  • NM_001354664.2:c.-267G>C
  • NM_015560.3:c.106G>C
  • NM_130831.3:c.106G>C
  • NM_130832.3:c.106G>C
  • NM_130833.3:c.106G>C
  • NM_130834.3:c.106G>C
  • NM_130835.3:c.106G>C
  • NM_130836.3:c.106G>C
  • NM_130837.3:c.106G>CMANE SELECT
  • NP_056375.2:p.Val36Leu
  • NP_056375.2:p.Val36Leu
  • NP_570844.1:p.Val36Leu
  • NP_570845.1:p.Val36Leu
  • NP_570846.1:p.Val36Leu
  • NP_570847.2:p.Val36Leu
  • NP_570848.1:p.Val36Leu
  • NP_570849.2:p.Val36Leu
  • NP_570850.2:p.Val36Leu
  • NP_570850.2:p.Val36Leu
  • LRG_337t1:c.106G>C
  • LRG_337t2:c.106G>C
  • LRG_337:g.26653G>C
  • LRG_337p1:p.Val36Leu
  • LRG_337p2:p.Val36Leu
  • NC_000003.11:g.193332585G>C
  • NM_015560.2:c.106G>C
  • NM_130837.2:c.106G>C
Protein change:
V36L
Molecular consequence:
  • NM_001354663.2:c.-267G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354664.2:c.-267G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_015560.3:c.106G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130831.3:c.106G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130832.3:c.106G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130833.3:c.106G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130834.3:c.106G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130835.3:c.106G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130836.3:c.106G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130837.3:c.106G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004040379GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Mar 30, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV004040379.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2023