ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.661T>A (p.Phe221Ile) (rs746803006)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000995222 SCV001149284 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Invitae RCV001037272 SCV001200678 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 2019-02-26 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with isoleucine at codon 221 of the POMT2 protein (p.Phe221Ile). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and isoleucine. This variant is present in population databases (rs746803006, ExAC 0.008%). This variant has not been reported in the literature in individuals with POMT2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably 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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