ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.454dup (p.Thr152fs) (rs771019056)

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Total submissions: 2
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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
Invitae RCV000797566 SCV000937128 pathogenic not provided 2018-12-10 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. This variant is present in population databases (rs771019056, ExAC 0.003%). This variant has been observed in individuals affected with primary hyperoxaluria (PMID: 25644115, 28569194). ClinVar contains an entry for this variant (Variation ID: 371016). 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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