ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2228G>A (p.Gly743Asp) (rs763187355)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229622 SCV000283551 uncertain significance Fanconi anemia 2019-11-13 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 743 of the FANCA protein (p.Gly743Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs763187355, ExAC 0.01%). This variant has not been reported in the literature in individuals with FANCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 237039). 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: "Probably 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.
Natera, Inc. RCV001276547 SCV001462945 uncertain significance Fanconi anemia, complementation group A 2020-05-01 no assertion criteria provided clinical testing

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