ClinVar Miner

Submissions for variant NM_012309.5(SHANK2):c.1924C>T (p.Arg642Ter)

dbSNP: rs2134275196
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV002287509 SCV002577736 pathogenic Rare disease with autism 2022-10-04 criteria provided, single submitter clinical testing PVS1;PM2_supporting;PM6
GeneDx RCV004591590 SCV005079499 likely pathogenic not provided 2022-09-26 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known 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
GenomeConnect, ClinGen RCV001825309 SCV002075178 not provided Autism spectrum disorder no assertion provided phenotyping only Variant interpreted as Likely pathogenic and reported on 06-20-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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