Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV001328740 | SCV001519926 | uncertain significance | Hypotrichosis 2 | 2019-05-07 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
| Labcorp Genetics |
RCV003546700 | SCV004269460 | uncertain significance | not provided | 2023-01-24 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs201876916, gnomAD 0.03%). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1027849). This variant has not been reported in the literature in individuals affected with CDSN-related conditions. This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 447 of the CDSN protein (p.Pro447Leu). |
| Ambry Genetics | RCV004035654 | SCV004922582 | uncertain significance | Inborn genetic diseases | 2023-03-01 | criteria provided, single submitter | clinical testing | The c.1340C>T (p.P447L) alteration is located in exon 2 (coding exon 2) of the CDSN gene. This alteration results from a C to T substitution at nucleotide position 1340, causing the proline (P) at amino acid position 447 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |