ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer)

dbSNP: rs1283284704
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667760 SCV000792261 pathogenic Fanconi anemia complementation group A 2017-06-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001065334 SCV001230290 pathogenic Fanconi anemia 2023-07-25 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individuals with Fanconi anemia (PMID: 24584348, 26740942, 29098742). This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Asp944Glyfs*5) 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). ClinVar contains an entry for this variant (Variation ID: 552489). For these reasons, this variant has been classified as Pathogenic.
Genetic Services Laboratory, University of Chicago RCV001816670 SCV002072102 pathogenic not provided 2017-07-28 criteria provided, single submitter clinical testing This sequence change results in an amino acid frameshift and creates a premature stop codon 4 amino acids downstream of the mutation, p.Asp944Glyfs*5. This pathogenic sequence change is predicted to result in an abnormal transcript, which may be degraded, or may lead to the production of a truncated FANCA protein with potentially abnormal function. This pathogenic sequence change has previously been described in patients with Fanconi anemia (Morgan NV, et al., 1999; Savino M et al., 1997; De Rocco D et al., 2014; Nicchia E, et al., 2015).
Fulgent Genetics, Fulgent Genetics RCV000667760 SCV002793003 pathogenic Fanconi anemia complementation group A 2022-04-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV000667760 SCV004196047 pathogenic Fanconi anemia complementation group A 2024-01-11 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000667760 SCV001425693 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, Sue Richards.
Natera, Inc. RCV000667760 SCV001452858 pathogenic Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing

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