Submissions for variant NM_020631.5(PLEKHG5):c.2677G>A (p.Gly893Arg) (rs200407689)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000428378	SCV000536593	uncertain significance	not provided	2017-01-27	criteria provided, single submitter	clinical testing	A variant of uncertain significance has been identified in the PLEKHG5 gene. The G893R variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The G893R variant is observed in 22/6622 (0.3%) alleles from individuals of African background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server)]. The G893R 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. However, this substitution occurs at a position that is not conserved and in silico analysis predicts this variant likely does not alter the 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.
Invitae	RCV001080412	SCV001019660	likely benign	Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c	2019-12-31	criteria provided, single submitter	clinical testing

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