ClinVar Miner

Submissions for variant NM_017541.4(CRYGS):c.53G>A (p.Gly18Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003581435 SCV004292231 pathogenic Cataract 20 multiple types 2023-12-31 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 18 of the CRYGS protein (p.Gly18Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with congenital cataracts (PMID: 28450710). It has also been observed to segregate with disease in related individuals. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant disrupts the p.Gly18 amino acid residue in CRYGS. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 16141006). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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