ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.490C>T (p.Arg164Trp)

gnomAD frequency: 0.00005  dbSNP: rs61733615
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728935 SCV000856562 uncertain significance not provided 2017-08-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002536419 SCV003515357 uncertain significance Cholestanol storage disease 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 164 of the CYP27A1 protein (p.Arg164Trp). This variant is present in population databases (rs61733615, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with CYP27A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 593797). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CYP27A1 protein function. 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.
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV002536419 SCV004042678 likely pathogenic Cholestanol storage disease criteria provided, single submitter clinical testing

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