Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000757172 | SCV000293365 | likely benign | not provided | 2020-12-22 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV001084724 | SCV000410210 | benign | Hereditary sensory neuropathy-deafness-dementia syndrome | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
| ARUP Laboratories, |
RCV000757172 | SCV000885307 | uncertain significance | not provided | 2018-02-02 | criteria provided, single submitter | clinical testing | The DNMT1 c.4876G>A; p.Glu1626Lys variant (rs201774098), 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 45 out of 211,492 chromosomes) and is classified as a variant of uncertain significance in ClinVar (ID: 246060). The glutamic acid at position 1626 is moderately conserved, considering 12 species and computational analyses of the effects of the p.Glu1626Lys 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.Glu1626Lys variant cannot be determined with certainty. |
| Labcorp Genetics |
RCV001084724 | SCV001107362 | likely benign | Hereditary sensory neuropathy-deafness-dementia syndrome | 2023-06-24 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002327161 | SCV002634028 | 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. |