ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.1064G>C (p.Ser355Thr) (rs141984760)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439411 SCV000515220 likely benign not specified 2016-12-20 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488159 SCV000574998 uncertain significance not provided 2016-12-01 criteria provided, single submitter clinical testing
Invitae RCV000144337 SCV000630040 likely benign Angelman syndrome 2020-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719958 SCV000850832 uncertain significance History of neurodevelopmental disorder 2017-02-15 criteria provided, single submitter clinical testing The p.S335T variant (also known as c.1004G>C), located in coding exon 3 of the UBE3A gene, results from a G to C substitution at nucleotide position 1004. The serine at codon 335 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV000144337 SCV000188514 uncertain significance Angelman syndrome 2014-02-14 no assertion criteria provided clinical testing possible diagnosis of Angelman syndrome

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