ClinVar Miner

Submissions for variant NM_000823.4(GHRHR):c.465-1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004818901 SCV005438864 likely pathogenic Isolated growth hormone deficiency, type 4 criteria provided, single submitter clinical testing The observed splice site c.465-1G>A variant in the GHRHR gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is absent in the gnomAD Exomes. The variant affects the AG acceptor splice site upstream to exon 10. Loss of function variants have been previously reported to be disease causing Nakaguma M, et al., 2019. The variant is predicted to be damaging by SpliceAI prediction tool. For these reasons, this variant has been classified as Likely Pathogenic.

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