ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.1850C>G (p.Ser617Cys) (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 2019-02-04 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 617 of the FANCI protein (p.Ser617Cys). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is present in population databases (rs749295501, ExAC 0.05%). This variant has not been reported in the literature in individuals with FANCI-related conditions. ClinVar contains an entry for this variant (Variation ID: 456198). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Benign; Align-GVGD: Class C0). 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 2018-10-31 criteria provided, single submitter clinical testing

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