ClinVar Miner

Submissions for variant NM_021954.4(GJA3):c.130G>A (p.Val44Met)

dbSNP: rs981126461
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000792076 SCV000931349 pathogenic Cataract 14 multiple types 2022-06-16 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with congenital cataracts families (PMID: 20431721, 21897748, 27275416). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 639312). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). Experimental studies have shown that this missense change affects GJA3 function (PMID: 29321356). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 44 of the GJA3 protein (p.Val44Met).
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania RCV000792076 SCV005081783 likely pathogenic Cataract 14 multiple types 2023-01-21 criteria provided, single submitter curation Variant identified and curated during a GJA3 specific review of the literature in relation to pediatric or congenital cataract. ACMG-AMP criteria applied: PP1(Strong), PM1, PS4(Supporting), PM2(Supporting), PP3. Original variant report: PMID:20431721;21897748;27275416;30078984. The cataract phenotype/s reported for this variant are: Nuclear with cortical punctate opacities and zonular. Gene review and curation guidelines are outlined in: https://doi.org/10.1080/17469899.2023.2160320

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