ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.3913A>G (p.Thr1305Ala)

gnomAD frequency: 0.00004  dbSNP: rs749376396
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000477067 SCV000552815 benign Intellectual disability, autosomal dominant 5 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318530 SCV000850558 likely benign Inborn genetic diseases 2018-10-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Baylor Genetics RCV000477067 SCV001526205 uncertain significance Intellectual disability, autosomal dominant 5 2018-09-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001805077 SCV002050511 likely benign not provided 2021-05-03 criteria provided, single submitter clinical testing

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