ClinVar Miner

Submissions for variant NM_022835.3(PLEKHG2):c.3257A>G (p.Asp1086Gly)

dbSNP: rs775055611
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004649548 SCV005152240 uncertain significance not specified 2024-05-14 criteria provided, single submitter clinical testing The c.3257A>G (p.D1086G) alteration is located in exon 19 (coding exon 18) of the PLEKHG2 gene. This alteration results from a A to G substitution at nucleotide position 3257, causing the aspartic acid (D) at amino acid position 1086 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV001264657 SCV001442920 likely benign Neurodevelopmental abnormality 2020-06-04 no assertion criteria provided clinical testing

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