Submissions for variant NM_004369.3(COL6A3):c.7513G>A (p.Gly2505Arg) (rs545819982)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000333171	SCV000345023	uncertain significance	not provided	2016-09-23	criteria provided, single submitter	clinical testing
Invitae	RCV000696056	SCV000824601	uncertain significance	Bethlem myopathy 1	2018-11-19	criteria provided, single submitter	clinical testing	This sequence change replaces glycine with arginine at codon 2505 of the COL6A3 protein (p.Gly2505Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs545819982, ExAC 0.04%). This variant has not been reported in the literature in individuals with COL6A3-related disease. ClinVar contains an entry for this variant (Variation ID: 290462). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; Align-GVGD: "Class C15"). 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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