ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.499_500insAGAGT (p.Ala167fs)

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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. RCV002309066 SCV002602875 likely pathogenic Primary hyperoxaluria, type II 2022-03-17 criteria provided, single submitter clinical testing NM_012203.1(GRHPR):c.499_500ins5(A167Efs*8) 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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