ClinVar Miner

Submissions for variant NM_015570.4(AUTS2):c.2693C>G (p.Ser898Trp)

dbSNP: rs534033649
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000487530 SCV000575520 uncertain significance not provided 2016-11-01 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV001250575 SCV001425438 uncertain significance Autism spectrum disorder due to AUTS2 deficiency 2020-02-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004965498 SCV005529480 likely benign Inborn genetic diseases 2024-10-11 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.

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