ClinVar Miner

Submissions for variant NM_020631.5(PLEKHG5):c.1392G>A (p.Thr464=) (rs1412619450)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523343 SCV000621405 uncertain significance not provided 2017-11-02 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the the PLEKHG5 gene. The c.1392 G>A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant isnot observed in large population cohorts (Lek et al., 2016). Several in-silico splice prediction models predict that c.1392 G>A damages or destroys the natural splice donor site in exon 13, which may 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. Additionally, splice site variants have not been reported in the Human Gene Mutation Database inassociation with PLEKHG5-related disorders (Stenson et al., 2014). 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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