ClinVar Miner

Submissions for variant NM_005726.6(TSFM):c.403C>T (p.Gln135Ter)

gnomAD frequency: 0.00001  dbSNP: rs751169823
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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 RCV001390639 SCV001592438 pathogenic not provided 2023-12-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln135*) 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 present in population databases (rs751169823, gnomAD 0.009%). 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: 1076656). 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 RCV003463037 SCV004205148 likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 2023-08-03 criteria provided, single submitter clinical testing

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