Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000176681 | SCV000228372 | benign | not specified | 2015-04-02 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000872951 | SCV001014855 | likely benign | Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C | 2024-01-31 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV002272159 | SCV002558087 | uncertain significance | not provided | 2022-07-30 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
| Ambry Genetics | RCV002381573 | SCV002671170 | likely benign | Inborn genetic diseases | 2019-12-20 | 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. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000176681 | SCV005394837 | likely benign | not specified | 2024-09-23 | criteria provided, single submitter | clinical testing | Variant summary: WNK1 c.6624C>A (p.Ser2208Arg) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00031 in 251416 control chromosomes, predominantly at a frequency of 0.0044 within the African or African-American subpopulation in the gnomAD database. The observed variant frequency within African or African-American control individuals in the gnomAD database exceeds the estimated maximal expected allele frequency for a pathogenic variant in WNK1 causing Neuropathy, Hereditary Sensory And Autonomic, Type 2A phenotype. To our knowledge, no occurrence of c.6624C>A in individuals affected with Neuropathy, Hereditary Sensory And Autonomic, Type 2A and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 195979). Based on the evidence outlined above, the variant was classified as likely benign. |
| Mayo Clinic Laboratories, |
RCV002272159 | SCV005408193 | uncertain significance | not provided | 2023-09-20 | criteria provided, single submitter | clinical testing | BS1 |