ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.28G>C (p.Ala10Pro) (rs376436045)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000755414 SCV000605449 likely benign not provided 2017-12-12 criteria provided, single submitter clinical testing The p.Ala10Pro variant (rs1376436045) has not been reported in the medical literature nor listed in gene-specific variant databases. This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.5 percent in the African population (identified on 83 out of 15978 chromosomes) and has been reported to the ClinVar database (Variation ID: 440359). The alanine at codon 10 is weakly conserved considering 14 species (Alamut v2.10) and Wallaby has proline at this position. Computational analyses of the p.Ala10Pro variant on protein structure and function indicate a neutral effect (SIFT: tolerated, MutationTaster: polymorphism, PolyPhen-2: benign). Given the current evidence, this variant is considered to be likely benign.
GeneDx RCV000508033 SCV000723329 likely benign not specified 2017-09-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001080634 SCV001006431 benign Charcot-Marie-Tooth disease axonal type 2C 2019-12-31 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174124 SCV001337245 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.