ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.19101+5G>A

gnomAD frequency: 0.00001  dbSNP: rs374929094
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000673418 SCV001576574 pathogenic Nemaline myopathy 2 2023-01-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in skipping of 122, but is expected to preserve the integrity of the reading-frame (PMID: 23826317). ClinVar contains an entry for this variant (Variation ID: 557295). This variant has been observed in individual(s) with clinical features of nemaline myopathy (PMID: 23826317, 31230720; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change falls in intron 122 of the NEB gene. It does not directly change the encoded amino acid sequence of the NEB protein. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product.
Baylor Genetics RCV003465527 SCV004200285 likely pathogenic Arthrogryposis multiplex congenita 6 2024-03-21 criteria provided, single submitter clinical testing
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire RCV004586872 SCV005038585 pathogenic Nemaline myopathy 2024-03-01 criteria provided, single submitter research PS3+PM1+PM2+PM3+PP3+PP4
Counsyl RCV000673418 SCV000798618 uncertain significance Nemaline myopathy 2 2018-03-20 flagged submission clinical testing
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000673418 SCV001167533 pathogenic Nemaline myopathy 2 no assertion criteria provided research
Natera, Inc. RCV000673418 SCV002084140 likely pathogenic Nemaline myopathy 2 2020-03-05 no assertion criteria provided clinical testing

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