ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.1885G>A (p.Ala629Thr) (rs200838499)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424800 SCV000535104 uncertain significance not provided 2018-10-04 criteria provided, single submitter clinical testing The A629T variant in the TRPV4 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Although not observed as homozygous, the A629T variant is observed in 23/33558 (0.069%) alleles from individuals of Latino background and 28/245854 (0.011%) total alleles in large population cohorts (Lek et al., 2016). The A629T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret A629T as a variant of uncertain significance.
Mendelics RCV000988904 SCV001138815 likely benign Charcot-Marie-Tooth disease axonal type 2C 2019-05-28 criteria provided, single submitter clinical testing

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