ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.9130G>A (p.Val3044Ile) (rs374628435)

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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 RCV000356914 SCV000336339 uncertain significance not provided 2015-10-20 criteria provided, single submitter clinical testing
Invitae RCV001242146 SCV001415214 uncertain significance Bethlem myopathy 1 2019-06-13 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 3044 of the COL6A3 protein (p.Val3044Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs374628435, ExAC 0.2%). This variant has not been reported in the literature in individuals with COL6A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 283949). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Not Available"; 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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