ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.4849G>A (p.Ala1617Thr) (rs200433282)

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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 RCV000727538 SCV000709571 uncertain significance not provided 2017-06-27 criteria provided, single submitter clinical testing
Invitae RCV000543223 SCV000657327 uncertain significance Bethlem myopathy 1 2018-01-16 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 1617 of the COL6A3 protein (p.Ala1617Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. While this variant is present in population databases (rs200433282), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in an individual with a COL6A3-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics RCV000243769 SCV000310182 likely benign not specified criteria provided, single submitter clinical testing

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