ClinVar Miner

Submissions for variant NM_000747.3(CHRNB1):c.516C>G (p.Tyr172Ter)

gnomAD frequency: 0.00004  dbSNP: rs201033437
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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 RCV000559003 SCV000656604 pathogenic Congenital myasthenic syndrome 2A 2022-10-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 476151). This variant has not been reported in the literature in individuals affected with CHRNB1-related conditions. This variant is present in population databases (rs201033437, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Tyr172*) 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).
Illumina Laboratory Services, Illumina RCV000778516 SCV000914794 uncertain significance Congenital myasthenic syndrome 4C 2018-10-30 criteria provided, single submitter clinical testing The CHRNB1 c.516C>G (p.Tyr172Ter) variant is a stop-gained variant that is predicted to result in a premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. Control data are unavailable for this variant, which is reported at a frequency of 0.000075 in the European (non-Finnish) population of the Exome Aggregation Consortium. Based on the limited evidence and potential impact of stop-gained variants, the p.Tyr172Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for congenital myasthenic syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
GenomeConnect - Invitae Patient Insights Network RCV000778516 SCV001749683 not provided Congenital myasthenic syndrome 4C no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 07-12-2019 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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