ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1083-9_1083-8del

dbSNP: rs781619064
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728342 SCV000855899 uncertain significance not provided 2017-07-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868931 SCV002206510 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2022-03-04 criteria provided, single submitter clinical testing This sequence change falls in intron 11 of the POMT1 gene. It does not directly change the encoded amino acid sequence of the POMT1 protein. This variant is present in population databases (rs781619064, gnomAD 0.002%). 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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