ClinVar Miner

Submissions for variant NM_021008.4(DEAF1):c.1186G>A (p.Gly396Ser)

gnomAD frequency: 0.00090  dbSNP: rs138447102
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711416 SCV000841781 uncertain significance not provided 2017-09-11 criteria provided, single submitter clinical testing
New York Genome Center RCV001836871 SCV002098010 uncertain significance Intellectual disability-epilepsy-extrapyramidal syndrome 2020-06-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000711416 SCV002384429 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002532912 SCV003731873 benign Inborn genetic diseases 2022-02-11 criteria provided, single submitter clinical testing This alteration is classified as 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.
PreventionGenetics, part of Exact Sciences RCV004535762 SCV004752492 likely benign DEAF1-related disorder 2020-08-17 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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