ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1267+3_1267+24del

dbSNP: rs1554088199
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667445 SCV000791890 uncertain significance Renal carnitine transport defect 2017-05-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000667445 SCV002214515 uncertain significance Renal carnitine transport defect 2021-09-01 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the SLC22A5 gene. It does not directly change the encoded amino acid sequence of the SLC22A5 protein. It affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of SLC22A5-related disease (PMID: 20574985). ClinVar contains an entry for this variant (Variation ID: 552220). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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