ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.5684C>T (p.Ser1895Leu)

gnomAD frequency: 0.00001  dbSNP: rs760532694
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174331 SCV000225613 uncertain significance not provided 2014-10-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001852124 SCV002180643 uncertain significance Bethlem myopathy 1A 2021-08-12 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 194056). 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 not expected to disrupt COL6A3 protein function. This variant has not been reported in the literature in individuals affected with COL6A3-related conditions. This variant is present in population databases (rs760532694, ExAC 0.006%). This sequence change replaces serine with leucine at codon 1895 of the COL6A3 protein (p.Ser1895Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine.

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