ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.6075+3A>C

gnomAD frequency: 0.00004  dbSNP: rs986325764
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001352250 SCV001546787 uncertain significance Nemaline myopathy 2 2024-09-14 criteria provided, single submitter clinical testing This sequence change falls in intron 47 of the NEB gene. It does not directly change the encoded amino acid sequence of the NEB protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has been observed in individual(s) with clinical features of nemaline myopathy (internal data). ClinVar contains an entry for this variant (Variation ID: 1047526). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV003130496 SCV003809589 uncertain significance not provided 2022-10-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001352250 SCV002079688 uncertain significance Nemaline myopathy 2 2021-10-06 no assertion criteria provided clinical testing

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