ClinVar Miner

Submissions for variant NM_000747.3(CHRNB1):c.883del (p.Ala295fs)

dbSNP: rs780391043
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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 RCV001380974 SCV001579211 pathogenic Congenital myasthenic syndrome 2A 2023-11-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala295Leufs*66) in the CHRNB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHRNB1 are known to be pathogenic (PMID: 10562302). This variant is present in population databases (rs780391043, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with CHRNB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1069201). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV003136054 SCV003818620 likely pathogenic not provided 2021-11-23 criteria provided, single submitter clinical testing

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