ClinVar Miner

Submissions for variant NM_001372044.2(SHANK3):c.4038C>T (p.Gly1346=)

gnomAD frequency: 0.00050  dbSNP: rs367676023
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001662502 SCV001875419 benign not provided 2019-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358390 SCV002620213 likely benign Inborn genetic diseases 2017-10-27 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.
CeGaT Center for Human Genetics Tuebingen RCV001662502 SCV004155335 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing SHANK3: BP4, BS2
Genetics Laboratory, Facudade de Medicina de Sao Jose do Rio Preto RCV000590960 SCV000598577 uncertain significance Autism 2016-01-01 no assertion criteria provided research

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