ClinVar Miner

Submissions for variant NM_014251.3(SLC25A13):c.955C>T (p.Arg319Ter)

gnomAD frequency: 0.00001  dbSNP: rs763191789
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000412829 SCV000491202 pathogenic not provided 2020-10-31 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 30642297, 19099775, 20927635, 25525159, 19185551, 24069319, 27405544)
Labcorp Genetics (formerly Invitae), Labcorp RCV000556924 SCV000646233 pathogenic Citrin deficiency 2024-03-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg319*) 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 present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individuals with neonatal intrahepatic cholestasis caused by citrin deficiency (PMID: 19185551). ClinVar contains an entry for this variant (Variation ID: 372748). 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.
Natera, Inc. RCV001828382 SCV002079382 pathogenic Citrullinemia 2020-09-01 no assertion criteria provided clinical testing

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