ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.4222+5G>A (rs201544504)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534526 SCV000626371 uncertain significance Fanconi anemia 2019-11-19 criteria provided, single submitter clinical testing This sequence change falls in intron 14 of the FANCM gene. It does not directly change the encoded amino acid sequence of the FANCM protein. This variant is present in population databases (rs201544504, ExAC 0.002%) but has not been reported in the literature in individuals with a FANCM-related disease. Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098) 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. 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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