ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.648C>A (p.Cys216Ter)

dbSNP: rs147871747
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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 RCV000648174 SCV000769988 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 2018-03-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys216*) in the POMT2 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 POMT2-related disease. Loss-of-function variants in POMT2 are known to be pathogenic (PMID: 15894594). For these reasons, this variant has been classified as Pathogenic.

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