ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1052+3A>G

dbSNP: rs2126788177
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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 RCV001947133 SCV002130413 uncertain significance Renal carnitine transport defect 2021-07-13 criteria provided, single submitter clinical testing 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. Nucleotide substitutions within 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. This variant has been observed in individual(s) with a positive newborn screening result for SLC22A5-related disease (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 6 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.

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