ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8365G>C (p.Gly2789Arg)

dbSNP: rs1768359621
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001220502 SCV001392496 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-09-08 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 COL12A1 protein function. ClinVar contains an entry for this variant (Variation ID: 949110). This missense change has been observed in individuals with clinical features of COL12A1-related conditions and/or myopathic Ehlers-Danlos syndrome (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 2789 of the COL12A1 protein (p.Gly2789Arg).
GeneDx RCV001555562 SCV001777003 pathogenic not provided 2021-04-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed in large population cohorts (Lek et al., 2016)
MGZ Medical Genetics Center RCV002290644 SCV002579830 uncertain significance Bethlem myopathy 2 2022-06-27 criteria provided, single submitter clinical testing

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