ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.414del (p.Leu138_Leu139insTer)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001071806 SCV001237128 pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2019-03-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu139*) in the POMT1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs746696167, ExAC 0.006%). This variant has not been reported in the literature in individuals with POMT1-related conditions. Loss-of-function variants in POMT1 are known to be pathogenic (PMID: 12369018, 15637732, 16575835). For these reasons, this variant has been classified as Pathogenic.

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