ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.6070C>T (p.Pro2024Ser)

gnomAD frequency: 0.00004  dbSNP: rs771186535
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000685746 SCV000813241 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-04-23 criteria provided, single submitter clinical testing This variant is present in population databases (rs771186535, gnomAD 0.004%). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 566034). This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 2024 of the COL12A1 protein (p.Pro2024Ser).
Fulgent Genetics, Fulgent Genetics RCV000685746 SCV000895788 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001567735 SCV001791476 uncertain significance not provided 2021-04-06 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID #566034; Landrum et al., 2016); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Revvity Omics, Revvity RCV001567735 SCV003831179 uncertain significance not provided 2019-09-19 criteria provided, single submitter clinical testing

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