ClinVar Miner

Submissions for variant NM_013382.5(POMT2):c.1321G>A (p.Gly441Ser) (rs199743727)

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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 RCV000596476 SCV000709265 uncertain significance not provided 2017-06-13 criteria provided, single submitter clinical testing
Invitae RCV001042775 SCV001206477 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 2019-12-26 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 441 of the POMT2 protein (p.Gly441Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs199743727, ExAC 0.01%). This variant has not been reported in the literature in individuals with POMT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 502501). 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: "Tolerated"; 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.
Illumina Clinical Services Laboratory,Illumina RCV001116049 SCV001274073 uncertain significance Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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