ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.958G>T (p.Glu320Ter)

gnomAD frequency: 0.00001  dbSNP: rs1331106064
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673330 SCV000798518 uncertain significance Primary hyperoxaluria, type II 2018-03-19 criteria provided, single submitter clinical testing
Invitae RCV002531337 SCV002955919 pathogenic not provided 2022-11-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the GRHPR protein in which other variant(s) (p.Met322Arg) have been determined to be pathogenic (PMID: 11030416; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 557220). This premature translational stop signal has been observed in individual(s) with primary hyperoxaluria type 2 (PMID: 31685312). This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Glu320*) in the GRHPR gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 9 amino acid(s) of the GRHPR protein.
Baylor Genetics RCV000673330 SCV004191723 likely pathogenic Primary hyperoxaluria, type II 2023-04-12 criteria provided, single submitter clinical testing

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