Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| ARUP Laboratories, |
RCV001810994 | SCV000604028 | uncertain significance | not provided | 2020-03-06 | criteria provided, single submitter | clinical testing | The INF2 c.2885A>C; p.Lys962Thr variant (rs376067427), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 439827). This variant is found in the non-Finnish European population with an overall allele frequency of 0.03% (36/124886 alleles) in the Genome Aggregation Database. The lysine at codon 962 is moderately conserved, but computational analyses (SIFT: tolerated, PolyPhen-2: damaging) predict conflicting effects of this variant on protein structure/function. However, given the lack of clinical and functional data, the significance of the p.Lys962Thr variant is uncertain at this time. |
| Labcorp Genetics |
RCV000649981 | SCV000771818 | likely benign | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2023-12-01 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV001113917 | SCV001271730 | benign | Focal segmental glomerulosclerosis 5 | 2018-01-12 | 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. |
| Ambry Genetics | RCV002438233 | SCV002750493 | likely benign | Inborn genetic diseases | 2021-08-06 | 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. |
| Prevention |
RCV003419879 | SCV004116548 | uncertain significance | INF2-related disorder | 2022-12-19 | criteria provided, single submitter | clinical testing | The INF2 c.2885A>C variant is predicted to result in the amino acid substitution p.Lys962Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.029% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/14-105179788-A-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |