ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.743T>A (p.Val248Asp)

gnomAD frequency: 0.00001  dbSNP: rs796052079
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526633 SCV005039278 uncertain significance not specified 2024-03-21 criteria provided, single submitter clinical testing Variant summary: GRHPR c.743T>A (p.Val248Asp) 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 was absent in 251426 control chromosomes. c.743T>A has been reported in the literature in individuals affected with Primary Hyperoxaluria Type 2 with homozygous and unreported genotypes (e.g. Williams_2015, Garrelfs_2019). These data indicate that the variant may be associated with disease. 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: 204236). Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186443 SCV000239797 pathogenic Primary hyperoxaluria, type II 2014-11-27 no assertion criteria provided research

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