ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.3567+1G>A

dbSNP: rs587780399
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001260937 SCV000152012 pathogenic Nemaline myopathy 2 2014-03-31 criteria provided, single submitter clinical testing
Pediatric Department, Peking University First Hospital RCV001260937 SCV001245542 pathogenic Nemaline myopathy 2 2020-04-11 criteria provided, single submitter provider interpretation
Baylor Genetics RCV001260937 SCV001525413 likely pathogenic Nemaline myopathy 2 2019-08-29 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001260937 SCV002236831 pathogenic Nemaline myopathy 2 2023-10-20 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 33 of the NEB gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with NEB-related conditions (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 129741). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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