Submissions for variant NM_000030.3(AGXT):c.283_285dup (p.Glu95dup)

dbSNP: rs180177190

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003330552	SCV004038672	uncertain significance	not specified	2023-08-03	criteria provided, single submitter	clinical testing	Variant summary: AGXT c.283_285dupGAG (p.Glu95dup) results in an in-frame duplication that is predicted to duplicate one amino acid into the encoded protein. The variant was absent in 250480 control chromosomes (gnomAD). c.283_285dupGAG has been reported in the literature in compound heterozygous individuals affected with Hyperoxaluria (Pirulli_1999) and Infantile Oxalosis (Deesker_2022). 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: 35812297, 10453743). No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.
Clinical Biochemistry Laboratory, Health Services Laboratory	RCV000186387	SCV000239737	pathogenic	Primary hyperoxaluria, type I	2014-11-27	no assertion criteria provided	research