ClinVar Miner

Submissions for variant NM_014251.3(SLC25A13):c.1841+3_1841+4del

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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 RCV003112193 SCV003786490 likely pathogenic Citrin deficiency 2022-06-20 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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. This variant has been observed in individual(s) with citrin deficiency (PMID: 30703226, 31607264). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 17 of the SLC25A13 gene. It does not directly change the encoded amino acid sequence of the SLC25A13 protein. It affects a nucleotide within the consensus splice site.

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