ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.523A>G (p.Thr175Ala) (rs146304351)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516838 SCV000615860 uncertain significance not specified 2017-04-13 criteria provided, single submitter clinical testing
Invitae RCV000684901 SCV000812362 uncertain significance Charcot-Marie-Tooth disease type 2C 2018-03-15 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 175 of the TRPV4 protein (p.Thr175Ala). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs146304351, ExAC 0.009%). This variant has not been reported in the literature in individuals with TRPV4-related disease. Experimental studies have shown that this missense change disrupts TRPV4 protein function in vitro (PMID: 19661060). 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000994976 SCV001148823 uncertain significance not provided 2019-06-01 criteria provided, single submitter clinical testing

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