ClinVar Miner

Submissions for variant NM_014251.3(SLC25A13):c.429_430del (p.Arg144fs)

dbSNP: rs2116717319
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001390452 SCV001592192 pathogenic Citrin deficiency 2022-10-07 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: 1076508). This variant has not been reported in the literature in individuals affected with SLC25A13-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg144Thrfs*30) 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).
Baylor Genetics RCV003469774 SCV004209360 likely pathogenic Citrullinemia, type II, adult-onset 2023-09-26 criteria provided, single submitter clinical testing

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