ClinVar Miner

Submissions for variant NM_001278716.2(FBXL4):c.1318-16T>C

gnomAD frequency: 0.00004  dbSNP: rs768679543
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000503919 SCV000598436 uncertain significance Mitochondrial DNA depletion syndrome 13 2017-08-10 criteria provided, single submitter reference population The NM_012160.4:c.1318-16T>C (NP_036292.2:p.=) [GRCH38: NC_000006.12:g.98880640A>G] variant in FBXL4 gene is interpretated to be a Uncertain Significance - Insufficient Evidence based on ACMG guidelines (PMID: 25741868). This variant meets one or more of the following evidence codes reported in the ACMG-guideline. PM2:This variant is absent in key population databases. Based on this evidence code ClinGen Pathogenicity Calculator (PMID:28081714) suggested that the variant is Uncertain Significance - Insufficient Evidence.
Labcorp Genetics (formerly Invitae), Labcorp RCV002527324 SCV002946681 likely benign not provided 2022-07-02 criteria provided, single submitter clinical testing

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