ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.905G>A (p.Arg302His)

gnomAD frequency: 0.00003  dbSNP: rs180177323
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000186444 SCV004191707 likely pathogenic Primary hyperoxaluria, type II 2023-09-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004525893 SCV005039469 uncertain significance not specified 2024-03-12 criteria provided, single submitter clinical testing Variant summary: GRHPR c.905G>A (p.Arg302His) results in a non-conservative amino acid change located in the D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (IPR006139) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 251472 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.905G>A has been reported in the literature in at least one compound heterozygous individual and an individual without a reported second variant, both affected with Primary Hyperoxaluria Type 2 (e.g. Williams_2014, Garrelfs_2019). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 31685312, 25629080). ClinVar contains an entry for this variant (Variation ID: 204237). Based on the evidence outlined above, the variant was classified as uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV000186444 SCV005677315 likely pathogenic Primary hyperoxaluria, type II 2024-03-12 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186444 SCV000239799 pathogenic Primary hyperoxaluria, type II 2014-11-27 no assertion criteria provided research

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