ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1327-3C>T

gnomAD frequency: 0.00014  dbSNP: rs749489742
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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 RCV001241008 SCV001413997 uncertain significance Congenital myasthenic syndrome 4A 2021-09-02 criteria provided, single submitter clinical testing This sequence change falls in intron 11 of the CHRNE gene. It does not directly change the encoded amino acid sequence of the CHRNE protein. It affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs749489742, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with CHRNE-related conditions. ClinVar contains an entry for this variant (Variation ID: 966350). 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 is not likely to affect RNA splicing. 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.
Natera, Inc. RCV001834136 SCV002093372 uncertain significance Congenital myasthenic syndrome 2020-04-13 no assertion criteria provided clinical testing

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