ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1204dup (p.His402fs)

dbSNP: rs2131749139
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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 RCV001388909 SCV001590062 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2020-08-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with POMT1-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in POMT1 are known to be pathogenic (PMID: 12369018, 15637732, 16575835). This sequence change creates a premature translational stop signal (p.His424Profs*10) in the POMT1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency).

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