ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3092A>G (p.Lys1031Arg)

gnomAD frequency: 0.00001  dbSNP: rs749725146
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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 RCV001951866 SCV002195690 uncertain significance Ehlers-Danlos syndrome, type 4 2022-02-24 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 C0"). This variant has not been reported in the literature in individuals affected with COL3A1-related conditions. This variant is present in population databases (rs749725146, gnomAD 0.01%). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 1031 of the COL3A1 protein (p.Lys1031Arg).

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