ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.5957T>G (p.Val1986Gly)

dbSNP: rs558534346
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001365169 SCV001561422 uncertain significance Bethlem myopathy 1A 2020-06-13 criteria provided, single submitter clinical testing This sequence change replaces valine with glycine at codon 1986 of the COL6A3 protein (p.Val1986Gly). The valine residue is weakly conserved and there is a moderate physicochemical difference between valine and glycine. This variant is present in population databases (rs558534346, ExAC 0.01%). This variant has not been reported in the literature in individuals with COL6A3-related conditions. 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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