ClinVar Miner

Submissions for variant NM_013382.5(POMT2):c.47C>G (p.Pro16Arg) (rs778898705)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539098 SCV000649944 uncertain significance Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 2017-04-01 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 16 of the POMT2 protein (p.Pro16Arg). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and arginine. This variant is present in population databases (rs778898705, ExAC 0.002%) but has not been reported in the literature in individuals with a POMT2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000593533 SCV000708886 uncertain significance not provided 2017-05-25 criteria provided, single submitter clinical testing

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