ClinVar Miner

Submissions for variant NM_001372044.2(SHANK3):c.1871G>C (p.Arg624Pro)

dbSNP: rs2083140726
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV001291836 SCV001480338 likely pathogenic Phelan-McDermid syndrome 2020-11-17 criteria provided, single submitter clinical testing The variant c.1871G>C, (p.(Ser624Thr)) in SHANK3-gene is not found in the gnomAD database. The mutation has not yet been described in the literature or listed in the databases HGMD and ClinVar databases. This variant has a pathogenic computational verdict based on in silico prediction programs (M-CAP, SIFT), but to our knowledge no functional characterization to determine the functional consequence of this substitution was performed as of yet. ACMG criteria used for classification: PVS1, PM2.

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