ClinVar Miner

Submissions for variant NM_032237.5(POMK):c.386_387del (p.Leu129fs)

dbSNP: rs2130626422
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001825152 SCV002074544 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 2022-01-06 criteria provided, single submitter clinical testing Variant summary: POMK c.386_387delTC (p.Leu129ProfsX13) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been associated with Walker-Warburg syndrome with meningoencephalocele (HGMD database). The variant was absent in 251442 control chromosomes (gnomAD). To our knowledge, no occurrence of c.386_387delTC in individuals affected with Muscular Dystrophy-Dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 12 and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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