ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.1470+1G>C

dbSNP: rs1220787593
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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 RCV001995275 SCV002250956 pathogenic Nemaline myopathy 2 2024-01-22 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 16 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 individuals with nemaline myopathy (Invitae). ClinVar contains an entry for this variant (Variation ID: 1470657). 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 RCV005025555 SCV005652549 likely pathogenic Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 2024-01-09 criteria provided, single submitter clinical testing

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