ClinVar Miner

Submissions for variant NM_000743.5(CHRNA3):c.907_908del (p.Leu303fs)

gnomAD frequency: 0.00024  dbSNP: rs538193392
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480331 SCV000572171 pathogenic not provided 2024-06-17 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 37171956, 33947782, 37161764, 38192228)
Undiagnosed Diseases Network, NIH RCV000991220 SCV001142600 uncertain significance CHRNA3-related disorder 2019-05-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000991220 SCV004116618 likely pathogenic CHRNA3-related disorder 2023-01-30 criteria provided, single submitter clinical testing The CHRNA3 c.907_908delCT variant is predicted to result in a frameshift and premature protein termination (p.Leu303Aspfs*115). This variant has been reported in the compound heterozygous or homozygous states in three individuals from two unrelated families with autonomic ganglionopathy (Shibao et al 2021. PubMed ID: 33947782). This variant is reported in 0.029% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/15-78894075-CAG-C). Frameshift variants in CHRNA3 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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