ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.1147G>A (p.Ala383Thr)

gnomAD frequency: 0.00001  dbSNP: rs146429448
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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) RCV000178210 SCV000230230 uncertain significance not provided 2015-01-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003517140 SCV004261800 uncertain significance Bethlem myopathy 1A 2023-08-18 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 not expected to disrupt COL6A3 protein function. ClinVar contains an entry for this variant (Variation ID: 197232). This variant has not been reported in the literature in individuals affected with COL6A3-related conditions. This variant is present in population databases (rs146429448, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 383 of the COL6A3 protein (p.Ala383Thr).

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