ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.1904A>G (p.Asn635Ser)

gnomAD frequency: 0.00006  dbSNP: rs775566992
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001839461 SCV001441465 uncertain significance Intellectual disability, autosomal dominant 5 2020-06-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001839461 SCV002273662 benign Intellectual disability, autosomal dominant 5 2024-08-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002275337 SCV002563890 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing SYNGAP1: PP2
Ambry Genetics RCV004035414 SCV004961440 uncertain significance Inborn genetic diseases 2023-09-26 criteria provided, single submitter clinical testing The c.1904A>G (p.N635S) alteration is located in exon 11 (coding exon 11) of the SYNGAP1 gene. This alteration results from a A to G substitution at nucleotide position 1904, causing the asparagine (N) at amino acid position 635 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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