ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.569C>T (p.Thr190Met) (rs1031096826)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000765042 SCV000896239 uncertain significance Brachyrachia (short spine dysplasia); Digital arthropathy-brachydactyly, familial; Metatrophic dysplasia; Parastremmatic dwarfism; Spondylometaphyseal dysplasia, Kozlowski type; Spondyloepiphyseal dysplasia Maroteaux type; Distal spinal muscular atrophy, congenital nonprogressive; Scapuloperoneal spinal muscular atrophy; Sodium serum level quantitative trait locus 1; Charcot-Marie-Tooth disease type 2C; Avascular necrosis of femoral head, primary, 2 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000481614 SCV000573995 uncertain significance not provided 2017-03-22 criteria provided, single submitter clinical testing The T190M variant in the TRPV4 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The T190M variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The T190M 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. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret T190M as a variant of uncertain significance.

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