ClinVar Miner

Submissions for variant NM_013382.5(POMT2):c.845G>A (p.Arg282His)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000734351 SCV000862483 uncertain significance not provided 2018-07-19 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000794709 SCV000986850 not provided 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 no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 08/01/2018 by GTR ID EGL Genetics. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Invitae RCV000794709 SCV000934134 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 2018-09-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 282 of the POMT2 protein (p.Arg282His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs756132642, ExAC 0.001%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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