Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002010882 | SCV002290597 | uncertain significance | not provided | 2024-11-05 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 771 of the AASS protein (p.Ser771Leu). This variant is present in population databases (rs139513373, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with AASS-related conditions. ClinVar contains an entry for this variant (Variation ID: 1502065). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt AASS protein function with a negative predictive value of 80%. 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 | RCV002657671 | SCV003725832 | uncertain significance | Inborn genetic diseases | 2022-07-05 | criteria provided, single submitter | clinical testing | The c.2312C>T (p.S771L) alteration is located in exon 21 (coding exon 20) of the AASS gene. This alteration results from a C to T substitution at nucleotide position 2312, causing the serine (S) at amino acid position 771 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |