ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.3877G>A (p.Val1293Ile)

gnomAD frequency: 0.00057  dbSNP: rs138398760
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001941486 SCV002224514 likely benign Fanconi anemia 2024-01-24 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001941486 SCV002529522 uncertain significance Fanconi anemia 2022-01-26 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002484721 SCV002779818 uncertain significance Fanconi anemia complementation group D2 2022-04-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002562821 SCV003695700 uncertain significance Inborn genetic diseases 2021-07-15 criteria provided, single submitter clinical testing The c.3877G>A (p.V1293I) alteration is located in exon 39 (coding exon 38) of the FANCD2 gene. This alteration results from a G to A substitution at nucleotide position 3877, causing the valine (V) at amino acid position 1293 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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