ClinVar Miner

Submissions for variant NM_001080442.3(SLC38A8):c.11del (p.Gln4fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003820548 SCV004622901 pathogenic not provided 2023-10-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln4Argfs*31) in the SLC38A8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC38A8 are known to be pathogenic (PMID: 24290379). This variant is present in population databases (rs747905946, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with foveal hypoplasia (PMID: 34415986). For these reasons, this variant has been classified as Pathogenic.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796848 SCV005417667 pathogenic Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PM3+PP4

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