ClinVar Miner

Submissions for variant NM_012309.4(SHANK2):c.4906C>T (p.Arg1636Ter) (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 likely pathogenic not provided 2018-12-20 criteria provided, single submitter clinical testing The R1636X variant in the SHANK2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1636X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R1636X as a likely pathogenic variant.
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 17 2020-02-05 no assertion criteria provided clinical testing

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