ClinVar Miner

Submissions for variant NM_001126105.2(SLC7A7):c.1005_1008del (p.Phe335Leufs)

dbSNP: rs386833794
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000049759 SCV002776075 likely pathogenic Lysinuric protein intolerance 2021-11-05 criteria provided, single submitter clinical testing
Invitae RCV000049759 SCV003442781 pathogenic Lysinuric protein intolerance 2023-11-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe335Leufs*15) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with lysinuric protein intolerance (PMID: 10080182, 12402335). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as 1291delCTTT. ClinVar contains an entry for this variant (Variation ID: 56346). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000049759 SCV004202543 pathogenic Lysinuric protein intolerance 2023-03-14 criteria provided, single submitter clinical testing
OMIM RCV000049759 SCV000026771 pathogenic Lysinuric protein intolerance 2008-01-01 no assertion criteria provided literature only
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049759 SCV000082166 probable-pathogenic Lysinuric protein intolerance no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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