ClinVar Miner

Submissions for variant NM_000823.4(GHRHR):c.57+1G>T

dbSNP: rs2302022
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000282841 SCV000468745 uncertain significance Isolated growth hormone deficiency type IB 2016-09-28 criteria provided, single submitter clinical testing The GHRHR c.57+1G>T variant occurs in a canonical splice site and is therefore predicted to disrupt or distort the normal gene product. A literature search was performed for the gene and cDNA change. No publications were found based on this search. This variant was not found in the 1000 Genomes Project, the Exome Sequencing Project or the Exome Aggregation Consortium. Coverage of this genomic region is good in the Exome Sequencing Project but poor in the Exome Aggregation Consortium. Based on the variant frequency, disease prevalence, disease penetrance and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of splice donor variants and the lack of clarifying evidence, the c.57+1G>T variant is classified as a variant of unknown significance but suspicious for pathogenicity for isolated growth hormone deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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