ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.3026A>C (p.Glu1009Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002729152 SCV003563500 uncertain significance Inborn genetic diseases 2021-07-20 criteria provided, single submitter clinical testing The c.3026A>C (p.E1009A) alteration is located in exon 15 (coding exon 15) of the SYNGAP1 gene. This alteration results from a A to C substitution at nucleotide position 3026, causing the glutamic acid (E) at amino acid position 1009 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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