ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.97C>T (p.Gln33Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003688360 SCV004451132 pathogenic not provided 2024-02-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln33*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GRHPR-related conditions. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005047761 SCV005681909 pathogenic Primary hyperoxaluria, type II 2024-02-10 criteria provided, single submitter clinical testing

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