ClinVar

Description

Variant summary: LIPN c.302delG (p.Gly101GlufsX7) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay. The variant allele was found at a frequency of 0.00021 in 248456 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in LIPN causing Lamellar Ichthyosis (0.00021 vs 0.00025), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.302delG in individuals affected with Lamellar Ichthyosis and no experimental evidence demonstrating its impact on protein function have been reported. However, this variant has been found in three unaffected family members in homozygous state (Shamia_2015). One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.