ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8837C>T (p.Pro2946Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003782127 SCV004577185 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-19 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2946 of the COL12A1 protein (p.Pro2946Leu). This variant is present in population databases (rs753169250, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. 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. 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.

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