ClinVar Miner

Submissions for variant NM_014251.3(SLC25A13):c.775C>T (p.Gln259Ter)

dbSNP: rs746155190
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001854929 SCV002238761 pathogenic Citrin deficiency 2023-10-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln259*) in the SLC25A13 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC25A13 are known to be pathogenic (PMID: 10369257, 14680984, 27405544). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with citrin deficiency (PMID: 21507300, 27405544). ClinVar contains an entry for this variant (Variation ID: 252920). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004567798 SCV005056785 pathogenic Citrullinemia, type II, adult-onset 2024-01-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005031829 SCV005671936 pathogenic Neonatal intrahepatic cholestasis due to citrin deficiency; Citrullinemia, type II, adult-onset 2024-04-03 criteria provided, single submitter clinical testing
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital RCV000239387 SCV000297735 pathogenic Neonatal intrahepatic cholestasis due to citrin deficiency 2010-02-23 no assertion criteria provided clinical testing

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