ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.781_782delinsTAC (p.Gly261fs)

dbSNP: rs1554748528
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666341 SCV000790617 likely pathogenic Primary hyperoxaluria, type II 2017-04-03 criteria provided, single submitter clinical testing
Invitae RCV000801247 SCV000941018 pathogenic not provided 2018-11-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly261Tyrfs*2) in the GRHPR gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GRHPR-related disease. ClinVar contains an entry for this variant (Variation ID: 551312). Loss-of-function variants in GRHPR are known to be pathogenic (PMID: 25644115). For these reasons, this variant has been classified as Pathogenic.

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