Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000385078 | SCV000343192 | uncertain significance | not provided | 2016-07-13 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV002487260 | SCV002782328 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 79 | 2021-09-08 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000385078 | SCV003251457 | uncertain significance | not provided | 2023-09-17 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 231 of the TPRN protein (p.Arg231Trp). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with TPRN-related conditions. ClinVar contains an entry for this variant (Variation ID: 288938). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on TPRN protein function. 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. |
| Ambry Genetics | RCV002522001 | SCV003653585 | uncertain significance | Inborn genetic diseases | 2022-02-11 | criteria provided, single submitter | clinical testing | The c.691C>T (p.R231W) alteration is located in exon 1 (coding exon 1) of the TPRN gene. This alteration results from a C to T substitution at nucleotide position 691, causing the arginine (R) at amino acid position 231 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Gene |
RCV000385078 | SCV003926282 | uncertain significance | not provided | 2022-11-17 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |