ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.455del (p.Gly152fs)

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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 RCV003507703 SCV004250456 pathogenic Renal carnitine transport defect 2023-12-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly152Valfs*24) in the SLC22A5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC22A5 are known to be pathogenic (PMID: 9916797). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SLC22A5-related conditions. For these reasons, this variant has been classified as Pathogenic.

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