Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000482541 | SCV000565777 | uncertain significance | not provided | 2020-11-10 | criteria provided, single submitter | clinical testing | Reported in heterozygous state in a patient with CMT (Vaeth et al., 2019); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29653220) |
| Labcorp Genetics |
RCV001081608 | SCV001004171 | likely benign | Charcot-Marie-Tooth disease type 2 | 2025-02-02 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002461244 | SCV002755327 | likely benign | Inborn genetic diseases | 2019-11-19 | 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. |
| Mayo Clinic Laboratories, |
RCV000482541 | SCV004228219 | uncertain significance | not provided | 2022-04-15 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV000482541 | SCV004562191 | uncertain significance | not provided | 2023-10-16 | criteria provided, single submitter | clinical testing | The AARS1 c.2166C>A; p.Phe722Leu variant (rs115882953), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 418601). This variant is found in the African/African-American population with an allele frequency of 0.41% (103/24,918 alleles) in the Genome Aggregation Database. The phenylalanine at codon 722 is highly conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.363). While the population frequency suggests that this is variant is unlikely to cause an autosomal dominant disorder, a contribution to an autosomal recessive phenotype cannot be ruled out. Therefore, the significance of the p.Phe722Leu variant is uncertain at this time. |