ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro)

gnomAD frequency: 0.00019  dbSNP: rs147672303
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001094249 SCV000399823 uncertain significance Fanconi anemia complementation group A 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.
GeneDx RCV000484383 SCV000573678 uncertain significance not provided 2021-10-04 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000287104 SCV000626189 likely benign Fanconi anemia 2024-01-26 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000484383 SCV001715180 uncertain significance not provided 2020-01-19 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000484383 SCV002010181 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000287104 SCV002535013 uncertain significance Fanconi anemia 2021-11-15 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003912330 SCV004730980 uncertain significance FANCA-related condition 2024-02-17 criteria provided, single submitter clinical testing The FANCA c.3551G>C variant is predicted to result in the amino acid substitution p.Arg1184Pro. This variant has been reported in multiple individuals with ovarian cancer; however, it was also been documented in controls (Table S6 - Song et al. 2020. PubMed ID: 32546565). This variant is reported in 0.033% of alleles in individuals of South Asian descent in gnomAD and has conflicting interpretations in ClinVar including likely benign and uncertain (https://www.ncbi.nlm.nih.gov/clinvar/variation/321335/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001094249 SCV001462873 uncertain significance Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing

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