ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2778+83C>G

dbSNP: rs750997715
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV000667523 SCV002060258 uncertain significance Fanconi anemia complementation group A 2021-11-08 criteria provided, single submitter clinical testing NM_000135.2(FANCA):c.2778+83C>G is an intronic variant classified as a variant of uncertain significance in the context of Fanconi anemia complementation group A. c.2778+83C>G has been observed in cases with relevant disease (PMID: 24584348, 29098742). Functional assessments of this variant are available in the literature (PMID: 9399890). c.2778+83C>G has been observed in population frequency databases (gnomAD: NFE <0.001%). In summary, there is insufficient evidence to classify NM_000135.2(FANCA):c.2778+83C>G as pathogenic or benign. Please note: this variant was assessed in the context of healthy population screening.
Labcorp Genetics (formerly Invitae), Labcorp RCV002532064 SCV003288368 uncertain significance Fanconi anemia 2024-04-22 criteria provided, single submitter clinical testing This sequence change falls in intron 28 of the FANCA gene. It does not directly change the encoded amino acid sequence of the FANCA protein. This variant is present in population databases (rs750997715, gnomAD 0.002%). This variant has been observed in individuals with Fanconi anemia (PMID: 9399890, 29098742). ClinVar contains an entry for this variant (Variation ID: 552293). Studies have shown that this variant is associated with altered splicing resulting in multiple RNA products (PMID: 9399890). 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.
Baylor Genetics RCV000667523 SCV004196105 likely pathogenic Fanconi anemia complementation group A 2024-02-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000667523 SCV005644448 likely pathogenic Fanconi anemia complementation group A 2024-01-31 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000667523 SCV001426097 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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