ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.1185A>G (p.Glu395=)

gnomAD frequency: 0.00599  dbSNP: rs114056442
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000154107 SCV000169711 benign not specified 2013-12-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000154107 SCV000203768 benign not specified 2014-01-03 criteria provided, single submitter clinical testing
Invitae RCV000463996 SCV000559145 benign Angelman syndrome 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312890 SCV000848326 benign Inborn genetic diseases 2016-05-13 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
Athena Diagnostics Inc RCV000154107 SCV001476396 benign not specified 2019-11-01 criteria provided, single submitter clinical testing

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