ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1415T>A (p.Phe472Tyr)

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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 RCV004771830 SCV005382595 uncertain significance Seizures, benign familial neonatal, 2 2024-10-18 criteria provided, single submitter clinical testing The c.1415T>A variant is not present in publicly available population databases like 1000 Genomes, EVS, ExAC, gnomAD, Indian Exome Database or our in-house exome database. This variant has neither been published in literature in individuals affected with KCNQ3-related conditions nor reported to the clinical databases like ClinVar, Human Genome Mutation Database (HGMD) or OMIM, in any affected individuals. In-silico pathogenicity prediction programs like PolyPhen-2, MutationTaster2, CADD etc predicted this variant to be likely deleterious, however these predictions were not confirmed by published functional studies.

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