ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1348G>A (p.Asp450Asn)

gnomAD frequency: 0.00001  dbSNP: rs1262122499
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001055866 SCV001220280 uncertain significance Fanconi anemia 2022-02-20 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 450 of the FANCA protein (p.Asp450Asn). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 851465). 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: "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.
Natera, Inc. RCV001274152 SCV001457956 uncertain significance Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing

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