ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.6152C>T (p.Pro2051Leu)

gnomAD frequency: 0.00001  dbSNP: rs373325814
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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 RCV001370418 SCV001566900 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2021-03-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with COL12A1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with leucine at codon 2051 of the COL12A1 protein (p.Pro2051Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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