ClinVar Miner

Submissions for variant NM_014252.4(SLC25A15):c.236C>G (p.Ser79Ter)

dbSNP: rs2138045987
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001898279 SCV002166199 pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 2022-07-25 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: 1393388). This variant has not been reported in the literature in individuals affected with SLC25A15-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser79*) in the SLC25A15 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC25A15 are known to be pathogenic (PMID: 11552031, 19242930).
Baylor Genetics RCV001898279 SCV004201686 likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 2023-07-15 criteria provided, single submitter clinical testing

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