ClinVar Miner

Submissions for variant NM_000163.5(GHR):c.599A>G (p.Asn200Ser)

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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 RCV004771823 SCV005382588 uncertain significance Laron-type isolated somatotropin defect 2024-10-21 criteria provided, single submitter clinical testing The c.599A>G variant is not present in publicly available population databases like 1000 Genomes, ExAC, EVS, gnomAD, Indian Exome Database or our in-house exome database. This variant has been previously observed in two Indian children affected with growth hormone insensitivity [1]. It has not been reported to the clinical databases like ClinVar, Human Genome Mutation Database (HGMD) or OMIM, in any affected individuals. In-silico pathogenicity prediction programs like SIFT, 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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