ClinVar Miner

Submissions for variant NM_003705.5(SLC25A12):c.28C>T (p.Arg10Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003716678 SCV004502673 pathogenic not provided 2023-03-08 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg10*) in the SLC25A12 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC25A12 are known to be pathogenic (PMID: 20015484, 31403263). This variant has not been reported in the literature in individuals affected with SLC25A12-related conditions. For these reasons, this variant has been classified as Pathogenic.

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