ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.670A>G (p.Thr224Ala)

dbSNP: rs1777305165
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253502 SCV001429238 uncertain significance Intellectual disability, autosomal dominant 5 2020-02-06 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV001253502 SCV005061040 uncertain significance Intellectual disability, autosomal dominant 5 criteria provided, single submitter clinical testing The missense c.670A>G (p.Thr224Ala) variant in the SYNGAP1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is absent in gnomAD Exomes. This variant has been reported to the ClinVar database as Uncertain significance. However, no details are available for independent assessment. The amino acid Threonine at position 224 is changed to a Alanine changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Thr224Ala in SYNGAP1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.
Ambry Genetics RCV004967931 SCV005511038 uncertain significance Inborn genetic diseases 2024-06-30 criteria provided, single submitter clinical testing The c.670A>G (p.T224A) alteration is located in exon 7 (coding exon 7) of the SYNGAP1 gene. This alteration results from a A to G substitution at nucleotide position 670, causing the threonine (T) at amino acid position 224 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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