ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.724G>A (p.Ala242Thr)

gnomAD frequency: 0.00001  dbSNP: rs779771679
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726761 SCV000590289 uncertain significance not provided 2023-06-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genetic Services Laboratory, University of Chicago RCV000498632 SCV000596537 uncertain significance not specified 2017-02-28 criteria provided, single submitter clinical testing
Invitae RCV000554879 SCV000649908 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2022-03-18 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 264 of the POMT1 protein (p.Ala264Thr). This variant is present in population databases (rs779771679, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with POMT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 432550). 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.
Eurofins Ntd Llc (ga) RCV000726761 SCV000702868 uncertain significance not provided 2016-12-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481587 SCV002792133 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 2021-07-06 criteria provided, single submitter clinical testing

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