Submissions for variant NM_012203.2(GRHPR):c.102G>A (p.Trp34Ter)

gnomAD frequency: 0.00001  dbSNP: rs180177304

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000186438	SCV000795928	likely pathogenic	Primary hyperoxaluria, type II	2017-11-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001390116	SCV001591742	pathogenic	not provided	2023-08-11	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Trp34*) 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 premature translational stop signal has been observed in individual(s) with primary hyperoxaluria type 2 (PMID: 25629080, 31685312). ClinVar contains an entry for this variant (Variation ID: 204231). For these reasons, this variant has been classified as Pathogenic.
Clinical Biochemistry Laboratory, Health Services Laboratory	RCV000186438	SCV000239790	pathogenic	Primary hyperoxaluria, type II	2014-11-27	no assertion criteria provided	research
Natera, Inc.	RCV000186438	SCV002075668	pathogenic	Primary hyperoxaluria, type II	2020-12-31	no assertion criteria provided	clinical testing