ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.169G>A (p.Val57Ile) (rs768434256)

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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 RCV000368110 SCV000333969 uncertain significance not provided 2015-08-18 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764266 SCV000895279 uncertain significance Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1; Myosclerosis, autosomal recessive 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001045882 SCV001209756 uncertain significance Bethlem myopathy 1 2019-01-29 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 57 of the COL6A2 protein (p.Val57Ile). The valine residue is weakly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs768434256, ExAC 0.01%). This variant has not been reported in the literature in individuals with COL6A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 282475). 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 isoleucine 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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