ClinVar Miner

Submissions for variant NM_012309.5(SHANK2):c.4906C>T (p.Arg1636Ter)

dbSNP: rs1565526121
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760886 SCV000890782 uncertain significance not provided 2023-07-28 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV001374606 SCV001571451 uncertain significance Autism spectrum disorder 2020-05-01 criteria provided, single submitter research The SHANK2 c.4906C>T (p.Arg1636*) is a nonsense variant that is predicted to result in early protein truncation. However, this variant is located 74 nucleotides from the intron/exon junction of the penultimate exon of the SHANK2 gene and therefore may escape, or be subject to reduced nonsense-mediated RNA decay (NMD). This variant has not been reported previously in the medical literature or in human population variant databases such as gnomAD, and is considered a variant of uncertain clinical significance.
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001028010 SCV001190774 likely pathogenic Autism, susceptibility to, 17 2020-02-05 no assertion criteria provided clinical testing

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