ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1451C>T (p.Thr484Met)

gnomAD frequency: 0.00007  dbSNP: rs201220016
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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) RCV000726285 SCV000343445 uncertain significance not provided 2018-05-15 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000279795 SCV000614745 uncertain significance not specified 2017-06-26 criteria provided, single submitter clinical testing
Invitae RCV001850443 SCV002132094 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 506 of the POMT1 protein (p.Thr506Met). This variant is present in population databases (rs201220016, gnomAD 0.02%). 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: 289144). 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 methionine 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 RCV000726285 SCV003811823 uncertain significance not provided 2022-08-02 criteria provided, single submitter clinical testing

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