ClinVar Miner

Submissions for variant NM_014251.3(SLC25A13):c.1399C>T (p.Arg467Ter)

dbSNP: rs540149539
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001208433 SCV001379821 pathogenic Citrin deficiency 2023-05-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 939098). This premature translational stop signal has been observed in individuals with citrin deficiency (PMID: 21424115, 27405544). This variant is present in population databases (rs540149539, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Arg467*) 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).
CeGaT Center for Human Genetics Tuebingen RCV001312129 SCV001502584 pathogenic not provided 2020-11-01 criteria provided, single submitter clinical testing
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam RCV002508296 SCV002546534 pathogenic Neonatal intrahepatic cholestasis due to citrin deficiency 2022-06-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV003469344 SCV004209357 pathogenic Citrullinemia, type II, adult-onset 2024-03-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833833 SCV002079375 pathogenic Citrullinemia 2020-04-04 no assertion criteria provided clinical testing

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