ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.6728C>T (p.Thr2243Ile)

dbSNP: rs746250737
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246774 SCV001420156 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-03-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. 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: 971080). This variant is present in population databases (rs746250737, gnomAD 0.003%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 2243 of the COL12A1 protein (p.Thr2243Ile).
Revvity Omics, Revvity RCV003145487 SCV003833386 uncertain significance not provided 2020-02-13 criteria provided, single submitter clinical testing
GeneDx RCV003145487 SCV003842520 uncertain significance not provided 2023-03-15 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 does not alter protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 971080; ClinVar); Not observed at significant frequency in large population cohorts (gnomAD)
GenomeConnect - Invitae Patient Insights Network RCV001246774 SCV004228650 not provided Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 10-21-2019 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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