ClinVar Miner

Submissions for variant NM_005502.4(ABCA1):c.2014C>T (p.Arg672Trp)

gnomAD frequency: 0.00001  dbSNP: rs759576379
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002541041 SCV002957278 uncertain significance not provided 2022-05-03 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1320030). 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 ABCA1 protein function. This variant has not been reported in the literature in individuals affected with ABCA1-related conditions. This variant is present in population databases (rs759576379, gnomAD 0.03%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 672 of the ABCA1 protein (p.Arg672Trp).
Phenosystems SA RCV001775207 SCV002011872 likely pathogenic Reduced delayed hypersensitivity no assertion criteria provided clinical testing
Phenosystems SA RCV001775208 SCV002012362 likely pathogenic Symphalangism affecting the proximal phalanx of the 4th finger no assertion criteria provided clinical testing
Phenosystems SA RCV001777124 SCV002014579 likely pathogenic Breast carcinoma no assertion criteria provided clinical testing

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