ClinVar Miner

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

gnomAD frequency: 0.00007  dbSNP: rs2302022
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001568303 SCV001792146 pathogenic not provided 2024-07-02 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 28456063, 31902114, 32935264, 23052699, 24057284, 24398366, 10084571, 25761575, 27552668, 24272598, 30959475, 29571594, 30860584, 31980526, 28428227, 28432269, 11443201, 16522693, 16355809, 10822217)
Labcorp Genetics (formerly Invitae), Labcorp RCV001568303 SCV003285506 pathogenic not provided 2021-12-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 15990). Disruption of this splice site has been observed in individuals with growth hormone deficiency (PMID: 10084571, 23052699). It has also been observed to segregate with disease in related individuals. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change affects a donor splice site in intron 1 of the GHRHR gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GHRHR are known to be pathogenic (PMID: 12444890, 16355809).
OMIM RCV000017361 SCV000037633 pathogenic Isolated growth hormone deficiency, type 4 2007-12-01 no assertion criteria provided literature only

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