ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.319dup (p.Leu107fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002307103 SCV002604571 likely pathogenic Primary hyperoxaluria, type II 2022-05-18 criteria provided, single submitter clinical testing NM_012203.1(GRHPR):c.319dupC(L107Pfs*84) is expected to be pathogenic in the context of primary hyperoxaluria type 2. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in GRHPR, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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