ClinVar Miner

Submissions for variant NM_001370298.3(FGD4):c.319+1G>A

gnomAD frequency: 0.00001  dbSNP: rs1057518446
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414379 SCV000492086 uncertain significance not specified 2016-12-05 criteria provided, single submitter clinical testing The FDG4 variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.-93+1 G>A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Several in-silico splice prediction models predict that c.-93+1 G>A may destroy a cryptic donor site which may supplant the natural donor site for intron 2 and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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