ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.653-2A>C

dbSNP: rs386134201
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000022337 SCV000795838 likely pathogenic Renal carnitine transport defect 2017-11-20 criteria provided, single submitter clinical testing
Invitae RCV000022337 SCV001592145 pathogenic Renal carnitine transport defect 2023-07-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 25384). Disruption of this splice site has been observed in individual(s) with primary carnitine deficiency (PMID: 28841266). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 3 of the SLC22A5 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SLC22A5 are known to be pathogenic (PMID: 9916797).
Genome-Nilou Lab RCV000022337 SCV002055809 pathogenic Renal carnitine transport defect 2021-07-15 criteria provided, single submitter clinical testing

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