ClinVar Miner

Submissions for variant NM_000163.5(GHR):c.309T>A (p.Asp103Glu)

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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 RCV003334459 SCV004042823 uncertain significance Laron-type isolated somatotropin defect 2023-10-06 criteria provided, single submitter clinical testing The c.309T>A variant is not present in publicly available population databases like 1000 Genomes, EVS, ExAC, gnomAD, Indian Exome Database or our in-house exome database. This variant has neither been published in literature in individuals affected with GHR-related conditions nor reported to the clinical databases like ClinVar, Human Genome Mutation Database (HGMD) or OMIM. In-silico pathogenicity programs like Polyphen-2, MutationTaster2, CADD etc predicted this variant to be likely deleterious, however these predictions were not confirmed by published functional studies. This variant is located in a mutational hotspot region of the gene and a different amino acid change in the same codon (Asp103Asn) has been previously observed in a child affected with Laron syndrome [PMID: 29025428].

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