Submissions for variant NM_001848.3(COL6A1):c.3043G>A (p.Gly1015Ser)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001205001	SCV001376236	uncertain significance	Bethlem myopathy 1	2019-10-08	criteria provided, single submitter	clinical testing	This sequence change replaces glycine with serine at codon 1015 of the COL6A1 protein (p.Gly1015Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs763470078, ExAC 0.01%). This variant has not been reported in the literature in individuals with COL6A1-related conditions. 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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