ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1106G>A (p.Arg369His)

gnomAD frequency: 0.00004  dbSNP: rs398124260
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081561 SCV000113492 uncertain significance not provided 2015-02-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001304016 SCV001493283 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 2022-09-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 369 of the POMT2 protein (p.Arg369His). This variant is present in population databases (rs398124260, gnomAD 0.1%). This missense change has been observed in individual(s) with muscular dystrophy-dystroglycanopathy (PMID: 32494558). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 95532). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt 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.
Fulgent Genetics, Fulgent Genetics RCV002477238 SCV002789451 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 2021-08-20 criteria provided, single submitter clinical testing

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