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NM_000431.4(MVK):c.1000G>A (p.Ala334Thr) AND Retinal dystrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2020
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:
RCV004814887.1

Allele description [Variation Report for NM_000431.4(MVK):c.1000G>A (p.Ala334Thr)]

NM_000431.4(MVK):c.1000G>A (p.Ala334Thr)

Gene:
MVK:mevalonate kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.11
Genomic location:
Preferred name:
NM_000431.4(MVK):c.1000G>A (p.Ala334Thr)
HGVS:
  • NC_000012.12:g.109595142G>A
  • NG_007702.1:g.26448G>A
  • NM_000431.4:c.1000G>AMANE SELECT
  • NM_001114185.3:c.1000G>A
  • NM_001301182.2:c.844G>A
  • NP_000422.1:p.Ala334Thr
  • NP_001107657.1:p.Ala334Thr
  • NP_001288111.1:p.Ala282Thr
  • LRG_156t1:c.1000G>A
  • LRG_156:g.26448G>A
  • LRG_156p1:p.Ala334Thr
  • NC_000012.11:g.110032947G>A
  • NM_000431.1:c.1000G>A
  • NM_000431.3:c.1000G>A
  • Q03426:p.Ala334Thr
Protein change:
A282T; ALA334THR
Links:
UniProtKB: Q03426#VAR_004026; OMIM: 251170.0006; dbSNP: rs104895317
NCBI 1000 Genomes Browser:
rs104895317
Molecular consequence:
  • NM_000431.4:c.1000G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114185.3:c.1000G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001301182.2:c.844G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Retinal dystrophy
Synonyms:
Inherited retinal dystrophy
Identifiers:
MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005072428Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 1, 2020) 		germlineclinical testing

PubMed (10)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiency.

Hinson DD, Chambliss KL, Hoffmann GF, Krisans S, Keller RK, Gibson KM.

J Biol Chem. 1997 Oct 17;272(42):26756-60.

PubMed [citation]
PMID:
9334262

Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.

Prietsch V, Mayatepek E, Krastel H, Haas D, Zundel D, Waterham HR, Wanders RJ, Gibson KM, Hoffmann GF.

Pediatrics. 2003 Feb;111(2):258-61.

PubMed [citation]
PMID:
12563048
See all PubMed Citations (10)

Details of each submission

From Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg, SCV005072428.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (10)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 13, 2025