ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.214C>T (p.Gln72Ter)

gnomAD frequency: 0.00001  dbSNP: rs866577166
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039311 SCV001202837 uncertain significance Charcot-Marie-Tooth disease axonal type 2C 2023-07-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln72*) in the TRPV4 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TRPV4 cause disease. This variant is not present in population databases (gnomAD no frequency). 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: 837879). 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.
Mendelics RCV002249641 SCV002516117 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252299 SCV002523984 uncertain significance See cases 2021-08-02 criteria provided, single submitter clinical testing ACMG classification criteria: PM2

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