ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.1510A>G (p.Thr504Ala)

gnomAD frequency: 0.00001  dbSNP: rs762000967
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001050213 SCV001214312 uncertain significance Charcot-Marie-Tooth disease axonal type 2C 2022-09-13 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. ClinVar contains an entry for this variant (Variation ID: 846813). This variant has not been reported in the literature in individuals affected with TRPV4-related conditions. This variant is present in population databases (rs762000967, gnomAD 0.02%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 504 of the TRPV4 protein (p.Thr504Ala).
GeneDx RCV001776108 SCV002012976 uncertain significance not provided 2019-04-29 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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