ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.3517G>C (p.Glu1173Gln)

dbSNP: rs1767653671
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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 RCV001235387 SCV001408069 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-03-18 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 1173 of the COL12A1 protein (p.Glu1173Gln). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 961656). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on COL12A1 protein function. 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.
GeneDx RCV001760245 SCV002008714 uncertain significance not provided 2020-09-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 961656; Landrum et al., 2016)
Revvity Omics, Revvity RCV001760245 SCV004235389 uncertain significance not provided 2023-06-27 criteria provided, single submitter clinical testing

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