Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001090938 | SCV001246725 | uncertain significance | not provided | 2019-09-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002557951 | SCV003453662 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2C | 2023-11-21 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 4 of the TRPV4 gene. It does not directly change the encoded amino acid sequence of the TRPV4 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs760776284, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with TRPV4-related conditions. ClinVar contains an entry for this variant (Variation ID: 871147). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |