ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.821C>T (p.Pro274Leu) (rs201093313)

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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 RCV000731127 SCV000858905 uncertain significance not provided 2017-12-28 criteria provided, single submitter clinical testing
Invitae RCV000184024 SCV000657077 uncertain significance Bethlem myopathy 1 2018-12-12 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 274 of the COL6A1 protein (p.Pro274Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs201093313, ExAC 0.003%). This variant has been reported in the heterozygous state in a single family affected with Bethlem myopathy (BM) (PMID: 15689448). ClinVar contains an entry for this variant (Variation ID: 202178). 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.
Mendelics RCV000184024 SCV000236555 uncertain significance Bethlem myopathy 1 2016-05-13 no assertion criteria provided clinical testing

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