ClinVar Miner

Submissions for variant NM_012309.5(SHANK2):c.1742del (p.Glu581fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002470090 SCV002766363 likely pathogenic Autism, susceptibility to, 17 2022-11-29 criteria provided, single submitter clinical testing Variant summary: SHANK2 c.1595delA (p.Glu532GlyfsX99) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 155232 control chromosomes. To our knowledge, no occurrence of c.1595delA in individuals affected with Autism and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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