ClinVar Miner

Submissions for variant NM_032237.5(POMK):c.10C>T (p.Gln4Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001053386 SCV001217644 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 2019-03-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln4*) in the POMK gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs202006335, ExAC 0.005%). This variant has not been reported in the literature in individuals with POMK-related conditions. Loss-of-function variants in POMK are known to be pathogenic (PMID: 24925318). For these reasons, this variant has been classified as Pathogenic.

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