ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3981C>T (p.His1327=)

gnomAD frequency: 0.00036  dbSNP: rs141278771
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000198364 SCV000253073 likely benign Fanconi anemia 2024-01-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001118445 SCV001276724 uncertain significance Fanconi anemia complementation group A 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genetic Services Laboratory, University of Chicago RCV001818475 SCV002071373 likely benign not specified 2021-05-27 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000198364 SCV002535034 likely benign Fanconi anemia 2021-05-19 criteria provided, single submitter curation
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001118445 SCV003919928 likely benign Fanconi anemia complementation group A 2022-01-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in 0.06% (42/75386) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/16-89805915-G-A?dataset=gnomad_r2_1) and in ClinVar (Variation ID:215634). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant suggests that this variant does not cause disease but requires further evidence. Therefore, this variant is classified as Likely Benign.
CeGaT Center for Human Genetics Tuebingen RCV003430755 SCV004143590 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing FANCA: BP4, BP7
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003430755 SCV004218594 likely benign not provided 2023-04-18 criteria provided, single submitter clinical testing

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