Submissions for variant NM_004369.3(COL6A3):c.3319A>G (p.Asn1107Asp) (rs1574710031)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000824645	SCV000965550	uncertain significance	Bethlem myopathy 1	2018-12-06	criteria provided, single submitter	clinical testing	This sequence change replaces asparagine with aspartic acid at codon 1107 of the COL6A3 protein (p.Asn1107Asp). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is not present in population databases (ExAC no frequency). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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