ClinVar Miner

Submissions for variant NM_013382.5(POMT2):c.1261C>T (rs727502855)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000594145 SCV000704253 pathogenic not provided 2018-02-14 criteria provided, single submitter clinical testing
Invitae RCV000699248 SCV000827950 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 2018-02-14 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 421 of the POMT2 protein (p.Arg421Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs727502855, ExAC 0.01%). This variant has been reported in combination with another POMT2 variant in an individual affected with limb-girdle muscular dystrophy (PMID: 27854218). 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 C15"). 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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