ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1364ACA[1] (p.Asn456del)

dbSNP: rs748289906
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001250153 SCV001424391 pathogenic Congenital myasthenic syndrome 4B criteria provided, single submitter clinical testing
Baylor Genetics RCV003469481 SCV004214299 pathogenic Congenital myasthenic syndrome 4A 2021-12-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003469481 SCV004296463 pathogenic Congenital myasthenic syndrome 4A 2024-01-11 criteria provided, single submitter clinical testing This variant, c.1367_1369del, results in the deletion of 1 amino acid(s) of the CHRNE protein (p.Asn456del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs748289906, gnomAD 0.004%). This variant has been observed in individual(s) with autosomal recessive congenital myasthenic syndrome (PMID: 15615813). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as 1306delAAC (N436del). ClinVar contains an entry for this variant (Variation ID: 973529). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects CHRNE function (PMID: 15615813). For these reasons, this variant has been classified as Pathogenic.

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