ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.148del (p.Cys50fs)

dbSNP: rs386134227
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000032093 SCV000486153 likely pathogenic Renal carnitine transport defect 2016-04-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000032093 SCV001229304 pathogenic Renal carnitine transport defect 2024-04-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys50Alafs*9) 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. ClinVar contains an entry for this variant (Variation ID: 38795). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000032093 SCV002055793 pathogenic Renal carnitine transport defect 2021-07-15 criteria provided, single submitter clinical testing

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