ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.14605C>T (p.Gln4869Ter)

dbSNP: rs2097324109
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002293854 SCV002586818 uncertain significance not provided 2022-04-14 criteria provided, single submitter clinical testing 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; Observed in an individual reported to have nemaline myopathy who also possessed a second NEB variant; however familial segregation information and additional clinical information was not included (Cummings et al., 2017); No data available from control populations to assess the frequency of this variant; This variant is associated with the following publications: (PMID: 28424332)

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