ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.694del (p.Met232fs) (rs1554661549)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627621 SCV000748621 likely pathogenic not provided 2018-04-19 criteria provided, single submitter clinical testing The c.787delA variant in the GNE gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.787delA variant causes a frameshift starting with codon Methionine 263, changes this amino acid to a Cysteine residue, and creates a premature Stop codon at position 4 of the new reading frame, denoted p.Met263CysfsX4. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.787delA variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.787delA as a likely pathogenic variant.
Natera, Inc. RCV001274365 SCV001458439 likely pathogenic GNE myopathy 2020-09-16 no assertion criteria provided clinical testing

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