ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.4319del (p.Gln1440fs)

dbSNP: rs2151709763
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237515 SCV002010167 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002540735 SCV003454303 uncertain significance Fanconi anemia 2022-07-21 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. ClinVar contains an entry for this variant (Variation ID: 1319515). This frameshift has been observed in individual(s) with clinical features of Lynch syndrome (PMID: 31248416). This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the FANCA gene (p.Gln1440Argfs*31). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 16 amino acid(s) of the FANCA protein and extend the protein by 14 additional amino acid residues.

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