ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.1350A>T (p.Lys450Asn)

dbSNP: rs142385746
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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 RCV001799557 SCV002043766 uncertain significance Developmental and epileptic encephalopathy, 19 2021-10-25 criteria provided, single submitter clinical testing The c.1350A>T variant is not present in publicly available population databases like 1000 Genomes, EVS, ExAC, gnomAD and dbSNP. The variant is not present in Indian Exome Database and in our in-house exome database. The variant was not earlier reported to ClinVar, Human Genome Mutation Database (HGMD) and OMIM databases in any affected individuals. In-silico pathogenicity prediction programs like SIFT, Polyphen-2, MutationTaster2, CADD predicted this variant to be likely deleterious, however these predictions have not been confirmed by published functional studies.

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