ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1363C>T (p.Arg455Trp)

gnomAD frequency: 0.00010  dbSNP: rs398124261
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081564 SCV000113495 uncertain significance not provided 2013-10-18 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000081564 SCV001475403 uncertain significance not provided 2020-02-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001857392 SCV002154177 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 2024-10-15 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 455 of the POMT2 protein (p.Arg455Trp). This variant is present in population databases (rs398124261, gnomAD 0.004%). 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: 95534). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on POMT2 protein function. 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.
Revvity Omics, Revvity RCV000081564 SCV003809726 uncertain significance not provided 2019-08-08 criteria provided, single submitter clinical testing

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