ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.2992C>T (p.Pro998Ser)

gnomAD frequency: 0.00004  dbSNP: rs182154506
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000630845 SCV000751814 uncertain significance Fanconi anemia 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 998 of the FANCI protein (p.Pro998Ser). This variant is present in population databases (rs182154506, gnomAD 0.01%). 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: 526330). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; 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 RCV000765229 SCV000896465 uncertain significance Fanconi anemia complementation group I 2018-10-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004691960 SCV005193979 uncertain significance not provided criteria provided, single submitter not provided

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