ClinVar Miner

Submissions for variant NM_001287.6(CLCN7):c.1448-2A>G

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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 RCV002465037 SCV002759430 likely pathogenic Autosomal dominant osteopetrosis 2; Autosomal recessive osteopetrosis 4 2022-06-14 criteria provided, single submitter clinical testing The c.1448-2A>G variant was identified as a part of carrier screening. This variant is not present in publicly available population databases like 1000 Genomes, Exome Variant Server (EVS), Genome Aggregation Database (gnomAD) and Indian Exome Database. The variant is not present in our in-house exome database. The variant was not 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 deleterious. Different algorithms to predict mRNA splicing abnormalities, predicted this variant to potentially affect splicing by activating a cryptic acceptor site, however these predictions were not confirmed by any published transcriptional studies.

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