ClinVar Miner

Submissions for variant NM_014252.4(SLC25A15):c.514G>T (p.Gly172Ter)

dbSNP: rs1480063127
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000812857 SCV000953185 pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 2023-12-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly172*) 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). 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 SLC25A15-related conditions. ClinVar contains an entry for this variant (Variation ID: 656435). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000812857 SCV004201674 likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 2023-10-04 criteria provided, single submitter clinical testing

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