ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2535_2536del (p.Cys846fs)

dbSNP: rs763378933
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665703 SCV000789866 pathogenic Fanconi anemia complementation group A 2017-02-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000798970 SCV000938615 pathogenic Fanconi anemia 2023-12-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys846Glnfs*20) in the FANCA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). This variant is present in population databases (rs763378933, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 9371798, 17924555, 21273304, 24584348, 28717661, 29098742). ClinVar contains an entry for this variant (Variation ID: 550840). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000665703 SCV002022290 pathogenic Fanconi anemia complementation group A 2019-05-20 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252201 SCV002523161 pathogenic See cases 2021-05-10 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1, PS4, PM2
Neuberg Centre For Genomic Medicine, NCGM RCV000665703 SCV004048012 pathogenic Fanconi anemia complementation group A criteria provided, single submitter clinical testing The frameshift variant c.2535_2536del (p.Cys846GlnfsTer20) in the FANCA gene has been reported previously in homozygous state in a family affected with Fanconi anemia (Kimble DC. et al., 2018). This variant is reported with the allele frequency (0.0008%) in the gnomAD and novel in 1000 genome database. It is submitted to ClinVar database as Pathogenic. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Pathogenic
Baylor Genetics RCV000665703 SCV004196018 pathogenic Fanconi anemia complementation group A 2024-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000665703 SCV005644478 pathogenic Fanconi anemia complementation group A 2024-02-28 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000665703 SCV001425827 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Daniela Pilonetto, Johan de Winter.
Natera, Inc. RCV000798970 SCV002092596 pathogenic Fanconi anemia 2020-07-31 no assertion criteria provided clinical testing

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