ClinVar Miner

Submissions for variant NM_001278716.2(FBXL4):c.79A>G (p.Thr27Ala)

gnomAD frequency: 0.00024  dbSNP: rs142853738
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Total submissions: 4
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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 RCV000499838 SCV000598228 uncertain significance Mitochondrial DNA depletion syndrome 13 2017-08-10 criteria provided, single submitter reference population The NM_012160.4:c.79A>G (NP_036292.2:p.Thr27Ala) [GRCH38: NC_000006.12:g.98926910T>C] variant in FBXL4 gene is interpretated to be a Uncertain Significance - Conflicting 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. BP4:Computational evidence/predictors indicate no impact on the FBXL4 structure, function, or protein-protein interaction. Based on this evidence code ClinGen Pathogenicity Calculator (PMID:28081714) suggested that the variant is Uncertain Significance - Conflicting Evidence.
Invitae RCV000908721 SCV001053499 likely benign not provided 2023-10-24 criteria provided, single submitter clinical testing
GeneDx RCV000908721 SCV001982618 uncertain significance not provided 2023-09-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002527314 SCV003678869 uncertain significance Inborn genetic diseases 2020-12-09 criteria provided, single submitter clinical testing The c.79A>G (p.T27A) alteration is located in exon 3 (coding exon 1) of the FBXL4 gene. This alteration results from a A to G substitution at nucleotide position 79, causing the threonine (T) at amino acid position 27 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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