ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1234G>T (p.Ala412Ser)

gnomAD frequency: 0.00002  dbSNP: rs768314657
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181049 SCV000233324 likely benign not specified 2013-02-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001037428 SCV001200839 uncertain significance Ehlers-Danlos syndrome, type 4 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 412 of the COL3A1 protein (p.Ala412Ser). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and serine. This variant is present in population databases (rs768314657, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with COL3A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 199693). 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: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). 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.

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