ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.1749T>C (p.Phe583=)

gnomAD frequency: 0.00024  dbSNP: rs201037656
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000861177 SCV001001419 benign Fanconi anemia 2024-01-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001115983 SCV001274001 uncertain significance Fanconi anemia complementation group I 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Sema4, Sema4 RCV000861177 SCV002529811 likely benign Fanconi anemia 2021-07-30 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV003396495 SCV004137599 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing FANCI: BP4, BP7

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