ClinVar Miner

Submissions for variant NM_000747.3(CHRNB1):c.866T>C (p.Val289Ala)

dbSNP: rs1908994498
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001066761 SCV001231779 pathogenic Congenital myasthenic syndrome 2A 2019-11-22 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 289 of the CHRNB1 protein (p.Val289Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Val289 amino acid residue in CHRNB1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 8872460, 27391121, 20562457). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has been reported to affect CHRNB1 protein function (PMID: 27375219). This variant has been observed in individual(s) with autosomal dominant slow-channel congenital myasthenic syndrome (PMID: 27375219). In at least one individual the variant was observed to be de novo. This variant is also known as V266A in the literature.

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