ClinVar Miner

Submissions for variant NM_012309.5(SHANK2):c.3266G>A (p.Arg1089His)

dbSNP: rs781863842
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817327 SCV002065461 uncertain significance not specified 2018-04-13 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV003150833 SCV003839052 uncertain significance Autism, susceptibility to, 17 2022-09-27 criteria provided, single submitter clinical testing This SHANK2 variant (rs781863842) is rare (<0.1%) in a large population dataset6 (gnomAD: 1/241130 total alleles; 0.0004%; no homozygotes) and has been reported in ClinVar. Two bioinformatic tools queried predict that this substitution would be damaging, and the arginine residue at this position is strongly conserved across the vertebrate species assessed. Bioinformatic analysis predicts that this missense variant would not affect normal exon 25 splicing, although this has not been confirmed experimentally to our knowledge. This variant was also identified in the specimen provided by the patient's father (JHG2025-3). We consider the clinical significance of c.3266G>A (p.Arg1089His) to be uncertain at this time.

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