Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV001139926 | SCV001300126 | uncertain significance | Hypercalcemia, infantile, 1 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
| Labcorp Genetics |
RCV001882425 | SCV002264029 | uncertain significance | not provided | 2022-06-08 | criteria provided, single submitter | clinical testing | 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 CYP24A1 protein function. ClinVar contains an entry for this variant (Variation ID: 896943). This variant has not been reported in the literature in individuals affected with CYP24A1-related conditions. This variant is present in population databases (rs140189382, gnomAD 0.006%). This sequence change replaces tyrosine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 407 of the CYP24A1 protein (p.Tyr407Asn). |
| Fulgent Genetics, |
RCV001139926 | SCV002776895 | uncertain significance | Hypercalcemia, infantile, 1 | 2022-05-10 | criteria provided, single submitter | clinical testing | |
| Duke University Health System Sequencing Clinic, |
RCV001139926 | SCV003919042 | uncertain significance | Hypercalcemia, infantile, 1 | 2023-04-20 | criteria provided, single submitter | research | |
| Ambry Genetics | RCV005318626 | SCV005987912 | uncertain significance | Inborn genetic diseases | 2025-03-05 | criteria provided, single submitter | clinical testing | The c.1219T>A (p.Y407N) alteration is located in exon 9 (coding exon 9) of the CYP24A1 gene. This alteration results from a T to A substitution at nucleotide position 1219, causing the tyrosine (Y) at amino acid position 407 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |