ClinVar Miner

Submissions for variant NM_004629.1(FANCG):c.1636+5G>A (rs748961871)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457215 SCV000547698 uncertain significance Fanconi anemia 2016-04-04 criteria provided, single submitter clinical testing This variant affects a highly conserved nucleotide within the consensus splice site of intron 12. The majority of introns (75%) have a G nucleotide at this position (PMID: 9536098). Nucleotide substitutions at the +5 position of the intron are relatively common causes of aberrant splicing (PMID: 17576681) but according to multiple splice site algorithms this particular variant is not predicted to significantly affect splicing. These predictions have not been confirmed by published functional studies. This variant is present in population databases (rs748961871, ExAC 0.006%) but has not been reported in the literature in individuals with a FANCG-related disease. In summary, this is a rare intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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