ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs)

gnomAD frequency: 0.00001  dbSNP: rs747892390
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000204633 SCV000259801 pathogenic Fanconi anemia 2024-02-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala1357Leufs*63) in the FANCA gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 99 amino acid(s) of the FANCA protein. This variant is present in population databases (rs747892390, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 9371798). ClinVar contains an entry for this variant (Variation ID: 219753). This variant disrupts a region of the FANCA protein in which other variant(s) (p.Asp1427Thrfs*6) have been determined to be pathogenic (PMID: 11091222). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000668440 SCV000793045 pathogenic Fanconi anemia complementation group A 2017-07-26 criteria provided, single submitter clinical testing
Baylor Genetics RCV000668440 SCV004195989 pathogenic Fanconi anemia complementation group A 2024-03-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480552 SCV004226798 pathogenic not provided 2023-04-28 criteria provided, single submitter clinical testing PM2, PM3_supporting, PVS1
Fulgent Genetics, Fulgent Genetics RCV000668440 SCV005642558 likely pathogenic Fanconi anemia complementation group A 2024-04-18 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000668440 SCV001425733 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Johan de Winter.

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