ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1772G>A (p.Arg591Gln)

gnomAD frequency: 0.00003  dbSNP: rs778093769
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000476740 SCV000547749 likely benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765329 SCV000896590 uncertain significance Fanconi anemia complementation group A 2021-10-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003418177 SCV004115234 uncertain significance FANCA-related condition 2023-06-19 criteria provided, single submitter clinical testing The FANCA c.1772G>A variant is predicted to result in the amino acid substitution p.Arg591Gln. This variant was reported in an individual with premature ovarian insufficiency (Yang et al. 2019. PubMed ID: 31535215). This variant is reported in 0.19% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-89845355-C-T) and has conflicting interpretations of likely benign and uncertain in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/408177/). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV000765329 SCV001457943 uncertain significance Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing

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