Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001048344 | SCV001212344 | likely benign | Charcot-Marie-Tooth disease axonal type 2C | 2023-07-19 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001811630 | SCV001472608 | uncertain significance | not provided | 2020-01-16 | criteria provided, single submitter | clinical testing | The TRPV4 c.535C>T; p.Arg179Cys variant (rs751647405), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in South Asian population with an allele frequency of 0.042% (13/30614 alleles) in the Genome Aggregation Database. The arginine at codon 179 is moderately conserved, and computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Arg179Cys variant is uncertain at this time. |
Ambry Genetics | RCV002348385 | SCV002641541 | likely benign | Inborn genetic diseases | 2020-03-05 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |