ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.8425C>T (p.Arg2809Ter)

dbSNP: rs762881892
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001589777 SCV001815231 likely pathogenic not provided 2019-06-28 criteria provided, single submitter clinical testing Reported previously in a patient with nemaline myopathy who also harbored a second NEB variant; however phase was undetermined (Lehtokari et al., 2014); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 33333461, 29669168, 29246625, 25205138)
Fulgent Genetics, Fulgent Genetics RCV002501944 SCV002783579 pathogenic Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 2021-11-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV003474012 SCV004200299 pathogenic Arthrogryposis multiplex congenita 6 2023-04-20 criteria provided, single submitter clinical testing

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