Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001061614 | SCV001226362 | uncertain significance | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of bone 2, early-onset | 2023-06-12 | criteria provided, single submitter | clinical testing | 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. 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) performed at Invitae indicates that this missense variant is expected to disrupt SQSTM1 protein function. ClinVar contains an entry for this variant (Variation ID: 856208). This variant has not been reported in the literature in individuals affected with SQSTM1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces valine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 144 of the SQSTM1 protein (p.Val144Asp). |
Ambry Genetics | RCV004678939 | SCV005173154 | uncertain significance | Inborn genetic diseases | 2024-03-25 | criteria provided, single submitter | clinical testing | The c.431T>A (p.V144D) alteration is located in exon 3 (coding exon 3) of the SQSTM1 gene. This alteration results from a T to A substitution at nucleotide position 431, causing the valine (V) at amino acid position 144 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |