ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3422C>A (p.Ala1141Asp)

dbSNP: rs587778318
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667894 SCV000792406 uncertain significance Fanconi anemia complementation group A 2017-06-23 criteria provided, single submitter clinical testing
Invitae RCV002514635 SCV003512687 uncertain significance Fanconi anemia 2022-03-26 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 1141 of the FANCA protein (p.Ala1141Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with acute lymphocytic leukemia (PMID: 26580448). ClinVar contains an entry for this variant (Variation ID: 134266). 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 C15"). 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.
Revvity Omics, Revvity RCV000667894 SCV003833897 uncertain significance Fanconi anemia complementation group A 2022-02-24 criteria provided, single submitter clinical testing
ITMI RCV000120939 SCV000085107 not provided not specified 2013-09-19 no assertion provided reference population

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