ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.6011T>C (p.Leu2004Pro)

gnomAD frequency: 0.00001  dbSNP: rs1023244422
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001300274 SCV001489411 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-08-10 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 2004 of the COL12A1 protein (p.Leu2004Pro). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 1003686). 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. 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 RCV003145527 SCV003833331 uncertain significance not provided 2020-03-13 criteria provided, single submitter clinical testing

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