ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1366-11G>A

gnomAD frequency: 0.00003  dbSNP: rs1157478556
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001771595 SCV002002881 uncertain significance not provided 2021-04-08 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001868626 SCV002246324 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2021-10-15 criteria provided, single submitter clinical testing This sequence change falls in intron 14 of the POMT1 gene. It does not directly change the encoded amino acid sequence of the POMT1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with POMT1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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