ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1671del (p.Ile557fs)

dbSNP: rs1949626483
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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 RCV001052576 SCV001216791 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2019-03-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile579Metfs*19) 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). 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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