ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1501_1502insTGGTTCCCA (p.Gly501delinsValValProSer) (rs878853661)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229262 SCV000283545 uncertain significance Fanconi anemia 2016-02-01 criteria provided, single submitter clinical testing This sequence change inserts 9 nucleotides in exon 16 of the FANCA mRNA (c.1501_1502insTGGTTCCCA). This insertion falls in the codon for glycine-501, generating codons for two valines, a proline, and a serine in the FANCA protein (p.Gly501delinsValValProSer). However, the integrity of the reading frame is still preserved. 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. 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. In summary, this is a novel insertion with uncertain impact on mRNA splicing and protein function. It has been classified as a Variant of Uncertain Significance.

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