ClinVar Miner

Submissions for variant NM_000601.6(HGF):c.1810T>C (p.Cys604Arg)

dbSNP: rs2115766118
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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 RCV002465061 SCV002759456 uncertain significance Autosomal recessive nonsyndromic hearing loss 39 2022-09-07 criteria provided, single submitter clinical testing The c.1810T>C variation is not present in publicly available population databases like 1000 Genomes, EVS, ExAC and Indian Exome Database. The variant is also not present in our in-house exome database. The variant has neither been published in literature nor reported to 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 that this variant is likely deleterious, however these predictions were not confirmed by any published functional studies.

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