Submissions for variant NM_000030.3(AGXT):c.1161C>A (p.Cys387Ter)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003072792	SCV003472717	pathogenic	not provided	2023-10-31	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Cys387*) in the AGXT gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 6 amino acid(s) of the AGXT protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with primary hyperoxaluria (PMID: 30488096, 32556641). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 2159394). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics	RCV003475507	SCV004194839	pathogenic	Primary hyperoxaluria, type I	2023-06-22	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV003475507	SCV005651661	likely pathogenic	Primary hyperoxaluria, type I	2024-01-20	criteria provided, single submitter	clinical testing
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University	RCV003475507	SCV005368530	pathogenic	Primary hyperoxaluria, type I	2024-08-26	no assertion criteria provided	clinical testing	Variant_type:missense/MutationTaster:Disease_causing/CADD:Damaging/phyloP:Nonconserved/phastCons:Nonconserved/gnomAD_exome_EastAsian:-/ExAC_EastAsian:-/dbSNP:-