ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.-16C>T

gnomAD frequency: 0.00001  dbSNP: rs762801533
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173254 SCV001336337 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811680 SCV002049716 uncertain significance not provided 2021-05-02 criteria provided, single submitter clinical testing The TRPV4 c.-16C>T variant (rs762801533), to our knowledge, is not reported in the medical literature but was observed by ARUP in a healthy adult individual. This variant is reported in ClinVar (Variation ID: 916989). This variant is found in the general population with an overall allele frequency of 0.002% (3/168414 alleles) in the Genome Aggregation Database. This variant is located in the 5' untranslated region and creates a novel protein translation start codon that if utilized may cause a frameshift. However, given the lack of clinical and functional data, the significance of the c.-16C>T variant is uncertain at this time.

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