Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003556098 | SCV004295445 | uncertain significance | not provided | 2023-07-03 | criteria provided, single submitter | clinical testing | Experimental studies have shown that this missense change affects SCARB1 function (PMID: 23029167, 27152966, 28363797, 33862056, 34372540). 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 SCARB1 protein function. ClinVar contains an entry for this variant (Variation ID: 39738). This missense change has been observed in individual(s) with high HDL cholesterol levels (PMID: 21480869, 23403740). This variant is present in population databases (rs187831231, gnomAD 0.02%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 175 of the SCARB1 protein (p.Thr175Ala). |
OMIM | RCV000032953 | SCV000056726 | association | High density lipoprotein cholesterol level quantitative trait locus 6 | 2011-06-01 | no assertion criteria provided | literature only |