ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.2T>C (p.Met1Thr) (rs138584408)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000186271 SCV000788608 pathogenic Primary hyperoxaluria, type I 2017-05-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV000186271 SCV001162941 likely pathogenic Primary hyperoxaluria, type I criteria provided, single submitter clinical testing
Invitae RCV001061218 SCV001225952 pathogenic not provided 2020-10-08 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the AGXT mRNA. The next in-frame methionine is located at codon 38. This variant is present in population databases (rs138584408, ExAC 0.03%). Disruption of the initiator codon has been observed in individual(s) with primary hyperoxaluria type 1 (PMID: 15365967, 24934730, 29456205). ClinVar contains an entry for this variant (Variation ID: 204065). Disruption of the initiator codon has been reported to affect AGXT protein function (PMID: 17495019). For these reasons, this variant has been classified as Pathogenic.
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000186271 SCV000239596 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided research

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