Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000757173 | SCV000293364 | likely benign | not provided | 2020-12-22 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV000757173 | SCV000885308 | uncertain significance | not provided | 2018-02-02 | criteria provided, single submitter | clinical testing | The DNMT1 c.868G>A p.Glu290Lys variant (rs200024502), to our knowledge, is not reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.02% (identified on 47 out of 246,268 chromosomes), and is classified as a variant of unknown significance in ClinVar (ID: 246059). The glutamic acid at position 290 is moderately conserved, considering 12 species, and computational analyses of the effects of the p.Glu290Lys variant on protein structure and function do not predict a deleterious effect (SIFT: tolerated, MutationTaster: polymorphism, PolyPhen-2: benign). Based on the available information, the clinical significance of the p.Glu290Lys variant cannot be determined with certainty. |
| Labcorp Genetics |
RCV001082230 | SCV001080537 | likely benign | Hereditary sensory neuropathy-deafness-dementia syndrome | 2023-06-24 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV001082230 | SCV001282175 | benign | Hereditary sensory neuropathy-deafness-dementia syndrome | 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
| Ambry Genetics | RCV002429151 | SCV002679730 | likely benign | Inborn genetic diseases | 2020-01-15 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |