ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.847T>A (p.Tyr283Asn) (rs200210023)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471793 SCV000549254 uncertain significance Charcot-Marie-Tooth disease axonal type 2C 2019-08-28 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with asparagine at codon 283 of the TRPV4 protein (p.Tyr283Asn). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and asparagine. This variant is present in population databases (rs200210023, ExAC 0.02%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has been observed in a family affected with blepharospasm (PMID: 29770609). This variant is also known as c.745T>A (p.Tyr249Asn) in the literature. ClinVar contains an entry for this variant (Variation ID: 409292). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Athena Diagnostics Inc RCV000516976 SCV000615869 uncertain significance not specified 2016-11-23 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173246 SCV001336328 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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