ClinVar Miner

Submissions for variant NM_001372044.2(SHANK3):c.2648G>C (p.Arg883Pro)

dbSNP: rs2083272071
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV001290122 SCV001469056 uncertain significance Phelan-McDermid syndrome 2021-01-15 criteria provided, single submitter clinical testing The variant c.2423G>C (p.(Arg808Pro)) in exon 21 of the SHANK3-gene is not found in known databases (ExAC or gnomAD), it affects a weakly conserved nucleotide, a moderately conserved amino acid and there is a moderate physicochemical difference between Arg and Pro. This variant has a pathogenic computational verdict based on in silico prediction programs (M-CAP, SIFT, PolyPhen-2). ACMG criteria used for classification: PM2, PP3, BP1.
CeGaT Center for Human Genetics Tuebingen RCV002264255 SCV002544749 uncertain significance not provided 2022-04-01 criteria provided, single submitter clinical testing SHANK3: PM2, PP2

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