Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001085543 | SCV000287321 | likely benign | EAST syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000712154 | SCV000341131 | uncertain significance | not provided | 2016-05-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000374787 | SCV000490578 | uncertain significance | not specified | 2016-06-30 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the KCNJ10 gene. The D46N variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The D46N variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project but the 1000 Genomes Project reports it was observed in 2/1322 (0.2%) alleles from individuals of African background. The D46N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Athena Diagnostics | RCV000712154 | SCV000842579 | uncertain significance | not provided | 2018-08-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317765 | SCV000849884 | uncertain significance | Inborn genetic diseases | 2018-06-12 | criteria provided, single submitter | clinical testing | The p.D46N variant (also known as c.136G>A), located in coding exon 1 of the KCNJ10 gene, results from a G to A substitution at nucleotide position 136. The aspartic acid at codon 46 is replaced by asparagine, 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. |
Illumina Laboratory Services, |
RCV001097719 | SCV001254024 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 4 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV001085543 | SCV001254025 | uncertain significance | EAST syndrome | 2017-05-13 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Prevention |
RCV004541386 | SCV004779382 | likely benign | KCNJ10-related disorder | 2020-09-14 | criteria provided, single submitter | 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). |
New York Genome Center | RCV001255129 | SCV001431223 | uncertain significance | Seizure; Intellectual disability | 2019-12-24 | no assertion criteria provided | clinical testing |