ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1557del (p.Lys519fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002309058 SCV002602867 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 2022-03-17 criteria provided, single submitter clinical testing NM_017739.3(POMGNT1):c.1557delG(K519Nfs*18) is expected to be pathogenic in the context of POMGNT-related disorders. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in POMGNT1, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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