ClinVar Miner

Submissions for variant NM_014270.5(SLC7A9):c.1353C>A (p.Tyr451Ter) (rs1007096305)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000681936 SCV001581351 pathogenic not provided 2018-05-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr451*) in the SLC7A9 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another SLC7A9 variant in an individual affected with cystinuria type B (PMID: 25296721). Loss-of-function variants in SLC7A9 are known to be pathogenic (PMID: 11157794). For these reasons, this variant has been classified as Pathogenic.
Gharavi Laboratory,Columbia University RCV000681936 SCV000809422 likely pathogenic not provided 2018-09-16 no assertion criteria provided research

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