Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000479635 | SCV000565633 | uncertain significance | not specified | 2017-03-27 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the TRPV4 gene. The P638L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The P638L variant is observed in 33/10398 (0.3%) alleles from individuals of African background, (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P638L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, missense variants in nearby residues have been reported in the Human Gene Mutation Database in association with TRPV4-related disorders (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Invitae | RCV000862047 | SCV001002482 | likely benign | Charcot-Marie-Tooth disease axonal type 2C | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001174117 | SCV001337238 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
ARUP Laboratories, |
RCV001289760 | SCV001477746 | likely benign | none provided | 2020-05-21 | criteria provided, single submitter | clinical testing |