ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.337G>T (p.Glu113Ter)

dbSNP: rs180177307
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412226 SCV000487142 likely pathogenic Primary hyperoxaluria, type II 2016-10-12 criteria provided, single submitter clinical testing
Invitae RCV002523876 SCV003440927 pathogenic not provided 2022-07-12 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: 371535). This premature translational stop signal has been observed in individual(s) with primary hyperoxaluria (PMID: 25644115). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu113*) in the GRHPR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GRHPR are known to be pathogenic (PMID: 25644115).
Baylor Genetics RCV000412226 SCV004191693 pathogenic Primary hyperoxaluria, type II 2023-10-30 criteria provided, single submitter clinical testing

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