ClinVar Miner

Submissions for variant NM_014251.3(SLC25A13):c.70-1G>A

gnomAD frequency: 0.00001  dbSNP: rs962082210
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728573 SCV000856165 pathogenic not provided 2017-08-04 criteria provided, single submitter clinical testing
Invitae RCV001221001 SCV001393019 likely pathogenic Citrin deficiency 2023-12-30 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 2 of the SLC25A13 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SLC25A13 are known to be pathogenic (PMID: 10369257, 14680984, 27405544). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with SLC25A13-related conditions. ClinVar contains an entry for this variant (Variation ID: 593512). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Baylor Genetics RCV003465657 SCV004209382 pathogenic Citrullinemia, type II, adult-onset 2023-07-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830599 SCV002079398 likely pathogenic Citrullinemia 2021-07-21 no assertion criteria provided clinical testing

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