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

gnomAD frequency: 0.00036  dbSNP: rs141278771

Total submissions: 7

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	2024-01-01	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