ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1574C>T (p.Ser525Leu)

gnomAD frequency: 0.00001  dbSNP: rs1018748368
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001232471 SCV001405032 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2022-01-11 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 547 of the POMT1 protein (p.Ser547Leu). This variant is not present in population databases (gnomAD no frequency). 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: 959174). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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 RCV003130206 SCV003809671 uncertain significance not provided 2023-12-05 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003130206 SCV004225117 uncertain significance not provided 2023-03-17 criteria provided, single submitter clinical testing BP4, PM2

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