ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1465GAG[1] (p.Glu490del)

dbSNP: rs1949322859
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001035278 SCV001198601 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2019-03-22 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with POMT1-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.1534_1536del, results in the deletion of 1 amino acid(s) of the POMT1 protein (p.Glu512del), but otherwise preserves the integrity of the reading frame.

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