ClinVar Miner

Submissions for variant NM_003982.4(SLC7A7):c.215_218del (p.Ser72fs)

dbSNP: rs386833812
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000049777 SCV004202516 pathogenic Lysinuric protein intolerance 2023-09-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000049777 SCV004296551 pathogenic Lysinuric protein intolerance 2023-03-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser72Trpfs*97) in the SLC7A7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC7A7 are known to be pathogenic (PMID: 10631139, 17764084). For these reasons, this variant has been classified as Pathogenic. This variant is also known as 455delCTCT. This premature translational stop signal has been observed in individual(s) with lysinuric protein intolerance (PMID: 10631139). This variant is not present in population databases (gnomAD no frequency).
Fulgent Genetics, Fulgent Genetics RCV000049777 SCV005636725 pathogenic Lysinuric protein intolerance 2024-04-09 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049777 SCV000082184 probable-pathogenic Lysinuric protein intolerance no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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