ClinVar Miner

Submissions for variant NM_005726.6(TSFM):c.250A>T (p.Lys84Ter)

dbSNP: rs2540949104
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002881474 SCV003238900 pathogenic not provided 2024-04-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys84*) in the TSFM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSFM are known to be pathogenic (PMID: 17033963, 20435138, 25037205, 27677415). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TSFM-related conditions. ClinVar contains an entry for this variant (Variation ID: 2032839). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003464625 SCV004205161 likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 2024-01-28 criteria provided, single submitter clinical testing

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