ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.454dup (p.Thr152fs)

gnomAD frequency: 0.00001  dbSNP: rs771019056
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411634 SCV000486469 likely pathogenic Primary hyperoxaluria, type II 2016-06-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000797566 SCV000937128 pathogenic not provided 2025-01-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr152Asnfs*39) 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 present in population databases (rs771019056, gnomAD 0.002%). This premature translational stop signal has been observed in individuals with primary hyperoxaluria (PMID: 25644115, 28569194). ClinVar contains an entry for this variant (Variation ID: 371016). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000411634 SCV002811073 pathogenic Primary hyperoxaluria, type II 2024-06-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV000411634 SCV004191701 pathogenic Primary hyperoxaluria, type II 2023-12-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV000411634 SCV001462561 pathogenic Primary hyperoxaluria, type II 2020-09-16 no assertion criteria provided clinical testing

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