ClinVar Miner

Submissions for variant NM_014251.3(SLC25A13):c.135G>C (p.Leu45Phe)

dbSNP: rs1798490375
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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 RCV001053667 SCV001217940 uncertain significance Citrin deficiency 2021-12-22 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 45 of the SLC25A13 protein (p.Leu45Phe). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with citrin deficiency (PMID: 31845334). ClinVar contains an entry for this variant (Variation ID: 849656). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam RCV002508285 SCV002546532 pathogenic Neonatal intrahepatic cholestasis due to citrin deficiency 2022-06-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV003467771 SCV004209379 likely pathogenic Citrullinemia, type II, adult-onset 2023-12-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832490 SCV002079397 uncertain significance Citrullinemia 2020-12-28 no assertion criteria provided clinical testing

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