ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.17845-2A>T

dbSNP: rs1177405905
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001050990 SCV001215123 pathogenic Nemaline myopathy 2 2023-09-08 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 113 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 clinical features of congenital myopathy (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 847448). 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.
Fulgent Genetics, Fulgent Genetics RCV005029617 SCV005650429 likely pathogenic Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 2024-03-06 criteria provided, single submitter clinical testing

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