ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1416C>T (p.Leu472=)

gnomAD frequency: 0.00133  dbSNP: rs145456588
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003891829 SCV000301934 benign CHRNE-related condition 2021-12-29 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Invitae RCV000641749 SCV000763397 benign Congenital myasthenic syndrome 4A 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001128042 SCV001287433 uncertain significance Congenital myasthenic syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Natera, Inc. RCV001128042 SCV001463158 benign Congenital myasthenic syndrome 2020-09-16 no assertion criteria provided clinical testing

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