ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.187G>C (p.Gly63Arg)

dbSNP: rs180177181
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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 RCV004689661 SCV005185199 pathogenic Primary hyperoxaluria 2024-05-21 criteria provided, single submitter clinical testing Variant summary: AGXT c.187G>C (p.Gly63Arg) results in a non-conservative amino acid change located in the Aminotransferase class V domain (IPR000192) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251324 control chromosomes. c.187G>C has been reported exclusively as homozygous in the literature in multiple individuals affected with autosomal recessive Primary Hyperoxaluria Type 1 (Alfadhel_2012, Alfadhel_2023). These data indicate that the variant is very likely to be associated with disease. At least one publication reports experimental evidence that this variant affects the normal function of the protein (Dindo_2018). The following publications have been ascertained in the context of this evaluation (PMID: 27629047, 36409364, 22956877, 29110180, 33721035, 19479957). ClinVar contains an entry for this variant (Variation ID: 204079). Based on the evidence outlined above, the variant was classified as pathogenic.
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186285 SCV000239613 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided research

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