ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.4021G>A (p.Ala1341Thr)

gnomAD frequency: 0.00006  dbSNP: rs771224281
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001039232 SCV001202752 benign Intellectual disability, autosomal dominant 5 2024-10-25 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV001039232 SCV002073135 uncertain significance Intellectual disability, autosomal dominant 5 criteria provided, single submitter clinical testing The missense variant p.A1341T in SYNGAP1 (NM_006772.3) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant was found in ClinVar with a classification of Uncertain Significance. There is a small physicochemical difference between alanine and threonine, which is not likely to impact secondary protein structure as these residues share similar properties. For these reasons, this variant has been classified as Uncertain Significance
Revvity Omics, Revvity RCV001039232 SCV003818868 uncertain significance Intellectual disability, autosomal dominant 5 2021-04-08 criteria provided, single submitter clinical testing

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