ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.996+6T>C

gnomAD frequency: 0.00001  dbSNP: rs200934877
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001241546 SCV001414569 uncertain significance Fanconi anemia 2022-09-07 criteria provided, single submitter clinical testing This sequence change falls in intron 10 of the FANCC gene. It does not directly change the encoded amino acid sequence of the FANCC protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs200934877, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with FANCC-related conditions. ClinVar contains an entry for this variant (Variation ID: 966788). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV002293516 SCV002586812 uncertain significance not provided 2022-10-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002484326 SCV002791930 uncertain significance Fanconi anemia complementation group C 2021-10-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001241546 SCV002081193 uncertain significance Fanconi anemia 2017-09-08 no assertion criteria provided clinical testing

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