ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.844C>T (p.Arg282Cys)

gnomAD frequency: 0.00009  dbSNP: rs200204831
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000356061 SCV000338732 uncertain significance not provided 2016-01-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855154 SCV002265568 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 2022-10-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 282 of the POMT2 protein (p.Arg282Cys). This variant is present in population databases (rs200204831, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with POMT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 285619). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV002494848 SCV002789753 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 2021-08-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000356061 SCV003809753 uncertain significance not provided 2019-08-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021180 SCV005008730 uncertain significance Inborn genetic diseases 2023-12-07 criteria provided, single submitter clinical testing The c.844C>T (p.R282C) alteration is located in exon 7 (coding exon 7) of the POMT2 gene. This alteration results from a C to T substitution at nucleotide position 844, causing the arginine (R) at amino acid position 282 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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