ClinVar Miner

Submissions for variant NM_015665.6(AAAS):c.281del (p.Asn94fs)

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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 RCV004586441 SCV005077800 likely pathogenic Glucocorticoid deficiency with achalasia 2024-03-01 criteria provided, single submitter clinical testing The c.281del variant is not present in publicly available population databases like 1000 Genomes, EVS, ExAC, Indian Exome Database or our in-house exome database. This variant has neither been published in literature with AAAS-related conditions nor reported to the clinical databases like ClinVar, Human Gene Mutation Database (HGMD) or OMIM, in any affected individuals. In-silico pathogenicity prediction programs like MutationTaster2, CADD, Varsome, Franklin, etc predicted this variant to be likely deleterious. This variant causes frameshift at the 94th amino acid position of the wild-type transcript which creates a premature translational stop signal at the altered transcript that may either result in translation of a truncated protein or causes nonsense mediated decay of the mRNA.

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