ClinVar Miner

Submissions for variant NM_012309.5(SHANK2):c.2333C>G (p.Ala778Gly)

dbSNP: rs1555156140
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System RCV000678354 SCV000804418 uncertain significance Autism, susceptibility to, 17 2017-04-04 criteria provided, single submitter provider interpretation This 6 year old male with autism spectrum disorder, likely mild intellectual disability, disruptive behavior, and insomnia was found to carry a paternally inherited variant in the SHANK2 gene. Variants, including missense variants, have been identified in other individuals with autism, schizophrenia, and intellectual disability. This patient's father has a history of bipolar disorder, panic disorder, learning disability, and substance abuse. The variant is absent from population databases. Computational models predict the variant to be probably damaging. Of note, the patient also carries a maternally inherited 99 kb deletion at 16p13.3 that is also classified as a variant of uncertain significance.

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