ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.1913C>T (p.Pro638Leu) (rs35058636)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479635 SCV000565633 uncertain significance not specified 2017-03-27 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the TRPV4 gene. The P638L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The P638L variant is observed in 33/10398 (0.3%) alleles from individuals of African background, (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P638L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, missense variants in nearby residues have been reported in the Human Gene Mutation Database in association with TRPV4-related disorders (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000862047 SCV001002482 likely benign Charcot-Marie-Tooth disease axonal type 2C 2019-12-31 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174117 SCV001337238 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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