ClinVar Miner

Submissions for variant NM_000079.4(CHRNA1):c.191A>C (p.Asp64Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV002465071 SCV002759466 uncertain significance Lethal multiple pterygium syndrome; Myasthenic syndrome, congenital, 1B, fast-channel; Congenital myasthenic syndrome 1A 2022-09-29 criteria provided, single submitter clinical testing The c.191A>C is not present in publicly available population databases like 1000 Genomes, EVS, ExAC, gnomAD, Indian Exome Database or our in-house exome database. The variant has neither been published in literature nor reported to clinical databases like ClinVar, Human Genome Mutation Database (HGMD) and/or OMIM. In silico pathogenicity programs like SIFT, PolyPhen-2, MutationTaster2, CADD etc. predicted this variant to be likely deleterious. The variant is located near the exon/intron splice junction (splice distance 2 bp) and is likely to affect splicing, however these predictions were not confirmed by any published functional/translational studies.

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