ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2519C>G (p.Ala840Gly)

dbSNP: rs587778313
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671626 SCV000796616 uncertain significance Fanconi anemia complementation group A 2017-12-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001854625 SCV002273272 uncertain significance Fanconi anemia 2022-08-20 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 840 of the FANCA protein (p.Ala840Gly). This variant is present in population databases (rs587778313, gnomAD 0.003%). 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: 134255). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV000671626 SCV002816290 uncertain significance Fanconi anemia complementation group A 2021-09-08 criteria provided, single submitter clinical testing
ITMI RCV000120928 SCV000085096 not provided not specified 2013-09-19 no assertion provided reference population

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