ClinVar Miner

Submissions for variant NM_020631.5(PLEKHG5):c.1038C>G (p.His346Gln) (rs1553174547)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658273 SCV000780044 uncertain significance not provided 2018-05-15 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the PLEKHG5 gene. The H346Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The H346Q variant is not observed in large population cohorts (Lek et al., 2016). The H346Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. 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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