ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.913C>T (p.Pro305Ser)

dbSNP: rs1204385773
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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 RCV001048245 SCV001212238 uncertain significance Ehlers-Danlos syndrome, type 4 2021-03-07 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: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with COL3A1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 305 of the COL3A1 protein (p.Pro305Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine.
PreventionGenetics, part of Exact Sciences RCV004536093 SCV004111512 uncertain significance COL3A1-related disorder 2023-04-24 criteria provided, single submitter clinical testing The COL3A1 c.913C>T variant is predicted to result in the amino acid substitution p.Pro305Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-189856410-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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