ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.2699C>T (p.Thr900Met)

gnomAD frequency: 0.00003  dbSNP: rs751157497
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001373552 SCV001570272 benign Intellectual disability, autosomal dominant 5 2023-06-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002550173 SCV003562317 uncertain significance Inborn genetic diseases 2021-06-22 criteria provided, single submitter clinical testing The c.2699C>T (p.T900M) alteration is located in exon 15 (coding exon 15) of the SYNGAP1 gene. This alteration results from a C to T substitution at nucleotide position 2699, causing the threonine (T) at amino acid position 900 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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