ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.404G>A (p.Arg135Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004550795 SCV004108228 uncertain significance SYNGAP1-related disorder 2023-05-22 criteria provided, single submitter clinical testing The SYNGAP1 c.404G>A variant is predicted to result in the amino acid substitution p.Arg135Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0054% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-33400478-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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