ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.2632G>T (p.Glu878Ter)

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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 RCV003234618 SCV003932438 likely pathogenic Hereditary spherocytosis type 1 2023-05-26 criteria provided, single submitter clinical testing The c.2632G>T variant is not present in publicly available population databases like 1000 Genomes, ExAC, EVS, gnomAD, Indian Exome Database or our in-house exome database. The variant has neither been published in literature nor reported to clinical databases like in ClinVar, Human Gene Mutation Database (HGMD) or OMIM, in any affected individuals. In-silico pathogenicity prediction programs like SIFT, PolyPhen2, MutationTaster2, CADD, Varsome, Franklin, InterVar etc predicted this variant to be likely deleterious. This variant creates a premature translational stop signal at the 878th amino acid position of the transcript that may either result in translation of a truncated protein or cause nonsense mediated decay of the mRNA.

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