Submissions for variant NM_002241.5(KCNJ10):c.300C>A (p.Asp100Glu)

dbSNP: rs139069413

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000503569	SCV000595306	uncertain significance	not specified	2015-09-03	criteria provided, single submitter	clinical testing
Invitae	RCV000558913	SCV000647876	likely benign	EAST syndrome	2024-01-17	criteria provided, single submitter	clinical testing
GeneDx	RCV001550181	SCV001770470	uncertain significance	not provided	2022-08-12	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics	RCV002438220	SCV002753752	uncertain significance	Inborn genetic diseases	2017-12-14	criteria provided, single submitter	clinical testing	The p.D100E variant (also known as c.300C>A), located in coding exon 1 of the KCNJ10 gene, results from a C to A substitution at nucleotide position 300. The aspartic acid at codon 100 is replaced by glutamic acid, an amino acid with highly 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001550181	SCV001930162	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001550181	SCV001972997	likely benign	not provided		no assertion criteria provided	clinical testing