ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.385G>A (p.Asp129Asn)

dbSNP: rs1193291074
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003083321 SCV003458051 uncertain significance Cholestanol storage disease 2022-06-26 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 129 of the CYP27A1 protein (p.Asp129Asn). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CYP27A1-related conditions. 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 not expected to disrupt 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.
Ambry Genetics RCV004071646 SCV004852530 uncertain significance Cardiovascular phenotype 2024-01-19 criteria provided, single submitter clinical testing The c.385G>A (p.D129N) alteration is located in exon 2 (coding exon 2) of the CYP27A1 gene. This alteration results from a G to A substitution at nucleotide position 385, causing the aspartic acid (D) at amino acid position 129 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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