ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.6586C>T (p.Gln2196Ter)

dbSNP: rs2101143618
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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 RCV001799543 SCV002043750 likely pathogenic Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2021-07-14 criteria provided, single submitter clinical testing The c.6586C>T variant is not present in publicly available population databases like 1000 Genomes, Exome Variant Server (EVS), Exome Aggregation Consortium (ExAC), Genome Aggregation Database (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/or OMIM databases in any affected individuals. In-silico pathogenicity prediction programs like MutationTaster2, CADD, Varsome etc. predicted this variant to be likely disease causing, however these predictions were not confirmed by any established functional studies. Due to lack of enough evidence the variant has been classified as likely pathogenic.

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