ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.1656+1G>T

dbSNP: rs748688174
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480112 SCV000567986 likely pathogenic not provided 2017-07-21 criteria provided, single submitter clinical testing The c.1656+1G>T variant in the FANCD2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 18, which is predicated to cause abnormal gene splicing resulting in an in-frame protein product with an abnormal message. However, in the absence of RNA/functional studies, the actual effect of c.1656+1G>T in this individual is unknown. The c.1656+1G>T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Based on review of the data in the context of the 2015 ACMG standards and guidelines for the interpretation of sequence variants (Richards et al., 2015), we now interpret c.1656+1G>T as a likely pathogenic variant.

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