Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001851128 | SCV002223535 | uncertain significance | not provided | 2022-06-08 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 385 of the ASAH1 protein (p.Leu385Pro). This variant is present in population databases (rs368345612, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ASAH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 417797). 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. 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. |
Reichenberger Lab, |
RCV000515786 | SCV000538196 | pathogenic | Keloid formation | 2017-04-03 | no assertion criteria provided | research | |
University of Washington Center for Mendelian Genomics, |
RCV000515786 | SCV001197903 | likely pathogenic | Keloid formation | no assertion criteria provided | research | ||
OMIM | RCV002280815 | SCV002569135 | uncertain significance | Variant of unknown significance | 2022-09-02 | no assertion criteria provided | literature only |