ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter) (rs1131692154)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623941 SCV000741170 pathogenic Inborn genetic diseases 2015-12-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000495902 SCV000579501 likely pathogenic Mental retardation, autosomal recessive 5 2017-06-21 no assertion criteria provided clinical testing The observed variant is reported neither in ExAC nor 1000 Genomes and is likely to be pathogenic by in silico analysis using Mutation Taster. Child, born to non-consangeneous parents, presented with clinical indications of day time sleepiness, increased dullness, irritability, changed behavior and emotions, decreased body strength, walking and speech developmental delay and drop attacks. Parents did not have the allele.

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