ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.1865G>A (p.Ser622Asn)

dbSNP: rs2078648587
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001219007 SCV001390923 uncertain significance Bethlem myopathy 1 2019-06-18 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with COL6A2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with asparagine at codon 622 of the COL6A2 protein (p.Ser622Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine.

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