ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.1483C>A (p.Pro495Thr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002982690 SCV003293480 uncertain significance Bethlem myopathy 1A 2022-10-23 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 495 of the COL6A3 protein (p.Pro495Thr). 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 not present in population databases (gnomAD no frequency).
GeneDx RCV004784085 SCV005396947 uncertain significance not provided 2024-05-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005019536 SCV005651570 uncertain significance Dystonia 27; Bethlem myopathy 1C; Ullrich congenital muscular dystrophy 1C 2024-05-03 criteria provided, single submitter clinical testing

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