ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.8863C>T (p.Pro2955Ser)

dbSNP: rs1700538106
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064653 SCV001229565 uncertain significance Bethlem myopathy 1 2019-11-20 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 COL6A3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 2955 of the COL6A3 protein (p.Pro2955Ser). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and serine.

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