ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.4113G>T (p.Gly1371=)

gnomAD frequency: 0.00001  dbSNP: rs1060501882
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468669 SCV000547768 uncertain significance Fanconi anemia 2016-05-28 criteria provided, single submitter clinical testing In summary, this is a novel silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a FANCA-related disease. This sequence change affects codon 1371 of the FANCA mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FANCA protein.
Natera, Inc. RCV001274513 SCV001458742 uncertain significance Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing

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