ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.3818G>C (p.Gly1273Ala)

gnomAD frequency: 0.00003  dbSNP: rs377553583
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489260 SCV000577112 uncertain significance not provided 2023-10-02 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
Invitae RCV000800891 SCV000940634 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-12-25 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1273 of the COL12A1 protein (p.Gly1273Ala). This variant is present in population databases (rs377553583, gnomAD 0.007%). 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: 426623). 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.
Revvity Omics, Revvity RCV000489260 SCV003831184 uncertain significance not provided 2020-09-24 criteria provided, single submitter clinical testing

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