ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.52A>C (p.Ser18Arg)

gnomAD frequency: 0.00001  dbSNP: rs779386306
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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 RCV001958523 SCV002224065 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2022-06-23 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 18 of the POMT1 protein (p.Ser18Arg). This variant is present in population databases (rs779386306, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with POMT1-related conditions. 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 tolerated. 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.
Ambry Genetics RCV002562953 SCV003702508 uncertain significance Inborn genetic diseases 2022-06-22 criteria provided, single submitter clinical testing The c.52A>C (p.S18R) alteration is located in exon 2 (coding exon 1) of the POMT1 gene. This alteration results from a A to C substitution at nucleotide position 52, causing the serine (S) at amino acid position 18 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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