ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.844del (p.Arg282fs)

dbSNP: rs386134209
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000022352 SCV000791803 pathogenic Renal carnitine transport defect 2017-05-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000022352 SCV001592146 pathogenic Renal carnitine transport defect 2024-01-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg282Aspfs*14) 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 premature translational stop signal has been observed in individual(s) with primary carnitine deficiency (PMID: 12210323). This variant is also known as g.17081delC. ClinVar contains an entry for this variant (Variation ID: 25399). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000022352 SCV002055815 pathogenic Renal carnitine transport defect 2021-07-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000022352 SCV002813868 pathogenic Renal carnitine transport defect 2021-12-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV000022352 SCV004203569 pathogenic Renal carnitine transport defect 2023-05-03 criteria provided, single submitter clinical testing

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