ClinVar Miner

Submissions for variant NM_025207.5(FLAD1):c.408C>A (p.Cys136Ter)

gnomAD frequency: 0.00002  dbSNP: rs1057518160
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414135 SCV000491596 pathogenic not provided 2016-10-19 criteria provided, single submitter clinical testing The C136X pathogenic variant in the FLAD1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The C136X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret C136X as a pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000414135 SCV002957866 pathogenic not provided 2025-01-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys136*) in the FLAD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FLAD1 are known to be pathogenic (PMID: 27259049). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with FLAD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 373037). For these reasons, this variant has been classified as Pathogenic.
Genomics England Pilot Project, Genomics England RCV001542550 SCV001759989 pathogenic Myopathy with abnormal lipid metabolism no assertion criteria provided clinical testing

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