ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.3774+4A>C

dbSNP: rs1026503983
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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 RCV001228509 SCV001400910 uncertain significance Nemaline myopathy 2 2022-07-05 criteria provided, single submitter clinical testing This sequence change falls in intron 34 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 0.0009%). This variant has not been reported in the literature in individuals affected with NEB-related conditions. ClinVar contains an entry for this variant (Variation ID: 955805). 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 create or strengthen a 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 RCV003130202 SCV003809627 uncertain significance not provided 2019-04-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001228509 SCV002077729 uncertain significance Nemaline myopathy 2 2020-10-19 no assertion criteria provided clinical testing

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