ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.2318A>C (p.Tyr773Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000816327 SCV000956828 uncertain significance Bethlem myopathy 1 2018-07-09 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with serine at codon 773 of the COL6A2 protein (p.Tyr773Ser). The tyrosine residue is weakly conserved and there is a large physicochemical difference between tyrosine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with COL6A2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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