ClinVar Miner

Submissions for variant NM_005505.5(SCARB1):c.523A>G (p.Thr175Ala)

gnomAD frequency: 0.00020  dbSNP: rs187831231
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Total submissions: 2
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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

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