ClinVar Miner

Submissions for variant NM_014251.3(SLC25A13):c.1799dup (p.Tyr600Ter)

gnomAD frequency: 0.00001  dbSNP: rs80338726
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000006375 SCV001163571 pathogenic Neonatal intrahepatic cholestasis due to citrin deficiency criteria provided, single submitter clinical testing
Invitae RCV001060497 SCV001225190 pathogenic Citrin deficiency 2023-04-15 criteria provided, single submitter clinical testing This variant is present in population databases (rs80338726, gnomAD 0.02%). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the SLC25A13 protein. Other variant(s) that disrupt this region (p.Arg605*, p.Glu601*) have been observed in individuals with SLC25A13-related conditions (PMID: 11153906, 11793471). This suggests that this may be a clinically significant region of the protein. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 6006). This variant is also known as Mutation VI, 1800ins1. This premature translational stop signal has been observed in individuals with citrin deficiency (PMID: 11153906, 11343052). This sequence change creates a premature translational stop signal (p.Tyr600*) in the SLC25A13 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 76 amino acid(s) of the SLC25A13 protein.
Baylor Genetics RCV003472984 SCV004201635 pathogenic Citrullinemia, type II, adult-onset 2023-05-13 criteria provided, single submitter clinical testing
OMIM RCV000006374 SCV000026556 pathogenic Citrullinemia type II 2001-05-01 no assertion criteria provided literature only
OMIM RCV000006375 SCV000026557 pathogenic Neonatal intrahepatic cholestasis due to citrin deficiency 2001-05-01 no assertion criteria provided literature only
GeneReviews RCV000006374 SCV000041256 not provided Citrullinemia type II no assertion provided literature only
Natera, Inc. RCV001831516 SCV002079361 pathogenic Citrullinemia 2020-09-16 no assertion criteria provided clinical testing

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