ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.559G>A (p.Val187Ile)

gnomAD frequency: 0.00002  dbSNP: rs761538996
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513985 SCV000609992 uncertain significance not provided 2017-06-22 criteria provided, single submitter clinical testing
Invitae RCV000810282 SCV000950475 uncertain significance Fanconi anemia 2022-09-09 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 187 of the FANCA protein (p.Val187Ile). This variant is present in population databases (rs761538996, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 445523). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FANCA protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002481659 SCV002799727 uncertain significance Fanconi anemia complementation group A 2022-04-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000810282 SCV002090752 uncertain significance Fanconi anemia 2019-10-28 no assertion criteria provided clinical testing

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