ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.1674+2T>C

dbSNP: rs1553603437
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664673 SCV000788674 likely pathogenic Nemaline myopathy 2 2018-02-16 criteria provided, single submitter clinical testing
Mendelics RCV000664673 SCV001135981 pathogenic Nemaline myopathy 2 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000664673 SCV002242970 pathogenic Nemaline myopathy 2 2022-03-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 550050). Disruption of this splice site has been observed in individuals with nemaline myopathy (PMID: 25205138). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 18 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).
Baylor Genetics RCV003472066 SCV004200317 likely pathogenic Arthrogryposis multiplex congenita 6 2023-03-27 criteria provided, single submitter clinical testing

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