ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.49A>T (p.Lys17Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004764868 SCV005374749 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 criteria provided, single submitter clinical testing The observed stop gain variant in POMGNT1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.49A>T variant is absent on gnomAD Exomes database. This variant has not been submitted to the ClinVar database. The reference nucleotide at this position on POMGNT1 gene is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants in POMGNT1 gene have been previously reported to be disease causing. However, additional functional studies will be required to prove the pathogenicity of this variant. For these reasons, this variant has been classified as Likely Pathogenic.

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