ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.1724G>A (p.Arg575His)

gnomAD frequency: 0.00004  dbSNP: rs758932190
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330301 SCV001521942 uncertain significance Intellectual disability, autosomal dominant 5 2019-12-10 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001330301 SCV001620160 likely benign Intellectual disability, autosomal dominant 5 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169546 SCV003906025 uncertain significance Inborn genetic diseases 2023-02-27 criteria provided, single submitter clinical testing The c.1724G>A (p.R575H) alteration is located in exon 11 (coding exon 11) of the SYNGAP1 gene. This alteration results from a G to A substitution at nucleotide position 1724, causing the arginine (R) at amino acid position 575 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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