ClinVar Miner

Submissions for variant NM_012309.5(SHANK2):c.1793G>A (p.Arg598His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill RCV001374607 SCV001571452 uncertain significance Autism spectrum disorder 2020-05-01 criteria provided, single submitter research The SHANK2 c.1793G>A (p.Arg598His) is a missense variant that changes a single amino acid from an arginine to a histidine in exon 14, which is present in only one of three possible RNA transcripts for this gene in RefSeq. This variant has not been reported previously in the medical literature, although a different missense at the same position (p.Arg598Leu) has been reported in a male with autism and intellectual disability (PMID: 22346768). This variant is also seen in 12 control individuals of European descent (0.02%) in gnomAD. This variant has conflicting predictions of pathogenicity by in silico tools and its effect on protein function is unknown. This variant is classified as a variant uncertain significance.

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