ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.5978G>A (p.Arg1993Gln)

gnomAD frequency: 0.00001  dbSNP: rs748657616
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000700663 SCV000829428 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-06-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1993 of the COL12A1 protein (p.Arg1993Gln). 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 COL12A1 protein function. ClinVar contains an entry for this variant (Variation ID: 577823). This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. This variant is present in population databases (rs748657616, gnomAD 0.004%).
GeneDx RCV004773111 SCV005384209 uncertain significance not provided 2024-01-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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