ClinVar Miner

Submissions for variant NM_014251.3(SLC25A13):c.1505C>T (p.Pro502Leu)

gnomAD frequency: 0.00003  dbSNP: rs139149160
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595565 SCV000703423 uncertain significance not provided 2016-12-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001163201 SCV001325216 uncertain significance Citrullinemia type II 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV002057271 SCV002389153 likely benign Citrin deficiency 2024-01-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV003475850 SCV004203609 likely pathogenic Citrullinemia, type II, adult-onset 2023-10-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003909878 SCV004726114 uncertain significance SLC25A13-related condition 2024-01-26 criteria provided, single submitter clinical testing The SLC25A13 c.1505C>T variant is predicted to result in the amino acid substitution p.Pro502Leu. This variant has been reported in a patient with questionable diagnosis of neonatal intrahepatic cholestasis and was shown in functional studies to be fully functional (Wongkittichote et al. 2013. PubMed ID: 21507300; Wen et al. 2011. PubMed ID: 23053473). This variant is reported in 0.17% to 0.20% of alleles, including one homozygous, in individuals of Ashkenazi Jewish descent in gnomAD datasets. Although we suspect that this variant may be benign, the clinical significance of this variant is classified as uncertain at this time due to insufficient functional and genetic evidence.
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital RCV000239389 SCV000297736 likely pathogenic Neonatal intrahepatic cholestasis due to citrin deficiency 2009-07-31 no assertion criteria provided clinical testing

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