ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.25003A>T (p.Lys8335Ter)

dbSNP: rs2152821411
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001381297 SCV001579619 pathogenic Nemaline myopathy 2 2020-06-13 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys8370*) in the NEB gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with NEB-related conditions.

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