ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.388C>T (p.Arg130Cys)

gnomAD frequency: 0.00001  dbSNP: rs557545831
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001217334 SCV001389169 uncertain significance Bethlem myopathy 1 2023-07-07 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 946463). This missense change has been observed in individual(s) with clinical features of COL6A2-related conditions (PMID: 32528171). This variant is present in population databases (rs557545831, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 130 of the COL6A2 protein (p.Arg130Cys).

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