ClinVar Miner

Submissions for variant NM_001080442.3(SLC38A8):c.495dup (p.Ala166fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003547400 SCV004252423 pathogenic not provided 2023-12-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala166Cysfs*40) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SLC38A8-related conditions. For these reasons, this variant has been classified as Pathogenic.

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