ClinVar Miner

Submissions for variant NM_014252.4(SLC25A15):c.408del (p.Met137fs)

dbSNP: rs780201405
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001056074 SCV001220493 pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 2023-09-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met137Cysfs*10) 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 (rs780201405, gnomAD 0.006%). 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: 851641). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001056074 SCV004201669 likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 2023-10-19 criteria provided, single submitter clinical testing

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