ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.7345C>T (p.Gln2449Ter)

dbSNP: rs2154134234
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV001823584 SCV002073137 likely pathogenic Nemaline myopathy 2 criteria provided, single submitter clinical testing The stop gained p.Q2449* in NEB (NM_001271208.2) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Q2449* variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously described to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002489890 SCV002792077 likely pathogenic Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 2021-08-26 criteria provided, single submitter clinical testing

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