ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.283G>A (p.Val95Met)

dbSNP: rs1891735247
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001041048 SCV001204642 uncertain significance Charcot-Marie-Tooth disease axonal type 2C 2023-02-01 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 839318). 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 (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 95 of the TRPV4 protein (p.Val95Met).

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