ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.1850C>G (p.Ser617Cys)

gnomAD frequency: 0.00002  dbSNP: rs749295501
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537611 SCV000626291 uncertain significance Fanconi anemia 2023-11-01 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 617 of the FANCI protein (p.Ser617Cys). This variant is present in population databases (rs749295501, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with FANCI-related conditions. ClinVar contains an entry for this variant (Variation ID: 456198). 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 expected to disrupt FANCI protein function with a positive predictive value of 80%. 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 RCV000765223 SCV000896459 uncertain significance Fanconi anemia complementation group I 2021-11-03 criteria provided, single submitter clinical testing

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