Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Laboratory, |
RCV001173254 | SCV001336337 | uncertain significance | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
ARUP Laboratories, |
RCV001811680 | SCV002049716 | uncertain significance | not provided | 2021-05-02 | criteria provided, single submitter | clinical testing | The TRPV4 c.-16C>T variant (rs762801533), to our knowledge, is not reported in the medical literature but was observed by ARUP in a healthy adult individual. This variant is reported in ClinVar (Variation ID: 916989). This variant is found in the general population with an overall allele frequency of 0.002% (3/168414 alleles) in the Genome Aggregation Database. This variant is located in the 5' untranslated region and creates a novel protein translation start codon that if utilized may cause a frameshift. However, given the lack of clinical and functional data, the significance of the c.-16C>T variant is uncertain at this time. |