ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.1949C>A (p.Thr650Asn)

dbSNP: rs1249629161
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001948561 SCV002203574 uncertain significance Charcot-Marie-Tooth disease axonal type 2C 2021-09-25 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TRPV4 protein function. This variant has not been reported in the literature in individuals affected with TRPV4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with asparagine at codon 650 of the TRPV4 protein (p.Thr650Asn). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and asparagine.

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