ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.1712A>C (p.Lys571Thr) (rs751040647)

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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 RCV000286257 SCV000343840 uncertain significance not provided 2017-09-14 criteria provided, single submitter clinical testing
Invitae RCV000812322 SCV000952633 uncertain significance Bethlem myopathy 1 2019-10-02 criteria provided, single submitter clinical testing This sequence change replaces lysine with threonine at codon 571 of the COL6A1 protein (p.Lys571Thr). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and threonine. This variant is present in population databases (rs751040647, ExAC 0.04%). This variant has been reported in an individual affected with Bethlem myopathy, however, this individual also carries another variant in COL6A3 gene (PMID: 15689448). This variant has also been reported in an individual affected with limb-girdle muscular dystrophy (PMID: 16141002). ClinVar contains an entry for this variant (Variation ID: 289470). 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 disruptive, but 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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