ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.1075G>A (p.Asp359Asn)

gnomAD frequency: 0.00001  dbSNP: rs774779620
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197780 SCV001368559 uncertain significance Charcot-Marie-Tooth disease axonal type 2C 2018-11-28 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP2.
Invitae RCV001197780 SCV001531404 uncertain significance Charcot-Marie-Tooth disease axonal type 2C 2023-02-13 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 359 of the TRPV4 protein (p.Asp359Asn). This variant is present in population databases (rs774779620, gnomAD 0.004%). 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: 931322). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.

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