ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.2127_2162dup (p.Glu720_Glu721insAspGluGlnGluGluGluGluGluGluGluGluGlu)

dbSNP: rs1553173380
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001722554 SCV000714156 likely benign not provided 2021-04-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420585 SCV002726095 uncertain significance Inborn genetic diseases 2020-08-08 criteria provided, single submitter clinical testing The c.2127_2162dup36 variant (also known as p.D709_E720dup), located in coding exon 18 of the PLEKHG5 gene, results from an in-frame duplication of 36 nucleotides at nucleotide positions 2127 to 2162. This results in the duplication of 12 extra residues (DEQEEEEEEEEE) between codons 709 and 720. This amino acid region is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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