ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.1832G>A (p.Cys611Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005060695 SCV005692821 uncertain significance Bethlem myopathy 1A 2024-08-05 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 611 of the COL6A2 protein (p.Cys611Tyr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with COL6A2-related conditions (PMID: 36982625). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt COL6A2 protein function with a positive predictive value of 80%. 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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