ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.735-1G>A (rs180177317)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000186451 SCV000486244 likely pathogenic Primary hyperoxaluria, type II 2016-04-21 criteria provided, single submitter clinical testing
Invitae RCV000806551 SCV000946555 likely pathogenic not provided 2019-12-23 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 7 of the GRHPR gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs180177317, ExAC 0.02%). This variant has been observed in individual(s) with hyperoxaluria (PMID: 11030416). ClinVar contains an entry for this variant (Variation ID: 204244). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GRHPR are known to be pathogenic (PMID: 25644115). For these reasons, this allele has been classified as Likely Pathogenic.
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000186451 SCV000239806 pathogenic Primary hyperoxaluria, type II 2014-11-27 no assertion criteria provided research

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