ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.699+49A>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002740591 SCV003009387 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2022-11-15 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; 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. This variant has not been reported in the literature in individuals affected with POMT1-related conditions. This variant is present in population databases (rs778613780, gnomAD 0.02%). This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 250 of the POMT1 protein (p.Met250Leu).
Ambry Genetics RCV004661460 SCV005149049 uncertain significance Inborn genetic diseases 2024-06-11 criteria provided, single submitter clinical testing The c.748A>T (p.M250L) alteration is located in exon 8 (coding exon 7) of the POMT1 gene. This alteration results from a A to T substitution at nucleotide position 748, causing the methionine (M) at amino acid position 250 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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