ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.2882_2899dup (p.His966_Arg967insHisHisHisHisHisHis)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002880751 SCV003232867 uncertain significance Intellectual disability, autosomal dominant 5 2022-08-22 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with SYNGAP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.2882_2899dup, results in the insertion of 6 amino acid(s) of the SYNGAP1 protein (p.His961_His966dup), but otherwise preserves the integrity of the reading frame.

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