ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg)

gnomAD frequency: 0.00006  dbSNP: rs747506380
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000712829 SCV000340502 uncertain significance not provided 2016-03-17 criteria provided, single submitter clinical testing
GeneDx RCV000712829 SCV000573194 uncertain significance not provided 2022-01-20 criteria provided, single submitter clinical testing 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; This variant is associated with the following publications: (PMID: 30564623)
Athena Diagnostics Inc RCV000712829 SCV000843364 uncertain significance not provided 2017-12-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764805 SCV000895950 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 2021-07-11 criteria provided, single submitter clinical testing
Invitae RCV001041917 SCV001205569 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 305 of the POMT1 protein (p.Ser305Arg). This variant is present in population databases (rs747506380, gnomAD 0.2%). 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: 286908). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000712829 SCV001714925 uncertain significance not provided 2019-05-20 criteria provided, single submitter clinical testing
Baylor Genetics RCV003454804 SCV004183518 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 2023-09-21 criteria provided, single submitter clinical testing

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