ClinVar Miner

Submissions for variant NM_020631.5(PLEKHG5):c.994C>T (p.Arg332Trp) (rs140202670)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236410 SCV000292666 uncertain significance not provided 2018-10-23 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the PLEKHG5 gene. The R332W variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R332W variant is observed in 65/18652 (0.35%) alleles from individuals of East Asian background (Lek et al., 2016). This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000236410 SCV000646074 likely benign not provided 2019-02-04 criteria provided, single submitter clinical testing

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