ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.2471C>T (p.Ser824Leu)

gnomAD frequency: 0.00001  dbSNP: rs764622721
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236094 SCV000294161 uncertain significance not provided 2016-04-29 criteria provided, single submitter clinical testing The S824L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The S824L 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. However, this substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Mayo Clinic Laboratories, Mayo Clinic RCV000236094 SCV001716140 uncertain significance not provided 2021-03-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494683 SCV002777054 uncertain significance Brachyrachia (short spine dysplasia); Familial digital arthropathy-brachydactyly; Metatropic dysplasia; Parastremmatic dwarfism; Spondylometaphyseal dysplasia, Kozlowski type; Spondyloepimetaphyseal dysplasia, Maroteaux type; Neuronopathy, distal hereditary motor, autosomal dominant 8; Scapuloperoneal spinal muscular atrophy; Sodium serum level quantitative trait locus 1; Charcot-Marie-Tooth disease axonal type 2C; Avascular necrosis of femoral head, primary, 2 2022-02-14 criteria provided, single submitter clinical testing

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