ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.1684A>G (p.Ile562Val) (rs374315921)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176643 SCV000228332 uncertain significance not provided 2016-08-03 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764264 SCV000895277 uncertain significance Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000547013 SCV000657001 uncertain significance Bethlem myopathy 1 2018-06-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 562 of the COL6A1 protein (p.Ile562Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs374315921, ExAC 0.004%). This variant has not been reported in the literature in individuals with COL6A1-related disease. ClinVar contains an entry for this variant (Variation ID: 195952). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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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