ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.4382G>T (p.Gly1461Val)

dbSNP: rs1576474944
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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 RCV000792537 SCV000931841 uncertain significance Ehlers-Danlos syndrome, type 4 2018-07-02 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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: "Not Available"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with COL3A1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with valine at codon 1461 of the COL3A1 protein (p.Gly1461Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005240575 SCV005885276 uncertain significance not specified 2025-02-24 criteria provided, single submitter clinical testing Variant summary: COL3A1 c.4382G>T (p.Gly1461Val) results in a non-conservative amino acid change located in the Fibrillar collagen, C-terminal domain IPR000885) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251204 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.4382G>T in individuals affected with Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 639678). Based on the evidence outlined above, the variant was classified as uncertain significance.

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