ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.2633C>T (p.Ala878Val) (rs774521989)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000194202 SCV000247076 likely pathogenic Myopathy 2015-01-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000266193 SCV000338776 uncertain significance not provided 2016-01-26 criteria provided, single submitter clinical testing
Invitae RCV000546019 SCV000657164 uncertain significance Bethlem myopathy 1 2019-05-16 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 878 of the COL6A2 protein (p.Ala878Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with COL6A2-related disease. ClinVar contains an entry for this variant (Variation ID: 210748). 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: "Deleterious"; 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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