Submissions for variant NM_000782.5(CYP24A1):c.469C>T (p.Arg157Trp)

dbSNP: rs35873579

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000326844	SCV000339109	uncertain significance	not provided	2016-02-02	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000764250	SCV000895255	uncertain significance	Hypercalcemia, infantile, 1	2018-10-31	criteria provided, single submitter	clinical testing
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	RCV000326844	SCV000924389	uncertain significance	not provided	2014-08-25	criteria provided, single submitter	clinical testing
Invitae	RCV000326844	SCV001005224	likely benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000764250	SCV001297800	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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx	RCV000326844	SCV002762258	uncertain significance	not provided	2022-12-12	criteria provided, single submitter	clinical testing	Identified in individuals with hypercalcemia or hypercalcuria in the literature but it is unknown whether they were screened for variants in other genes associated with hypercalcemia (Figueres et al., 2015; Trutin et al., 2022); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23293122, 34426522, 34307984, 34805638, 35282483, 25446019)
Revvity Omics, Revvity	RCV000764250	SCV003830394	uncertain significance	Hypercalcemia, infantile, 1	2023-10-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003417899	SCV004116753	uncertain significance	CYP24A1-related condition	2023-09-06	criteria provided, single submitter	clinical testing	The CYP24A1 c.469C>T variant is predicted to result in the amino acid substitution p.Arg157Trp. This variant was reported in at least four individuals with hypercalcemia and/or kidney stones along with a second potentially causative variant (Figueres. 2015. PubMed ID: 25446019; Hanna. 2021. PubMed ID: 34307984; Cogal. 2021. PubMed ID: 34805638), and in one individual with kidney stones without a second variant (Trutin. 2022. PubMed ID: 35282483). This variant is reported in 0.33% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-52788190-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
CeGaT Center for Human Genetics Tuebingen	RCV000326844	SCV004154741	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	CYP24A1: BP4
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute	RCV000764250	SCV004708184	uncertain significance	Hypercalcemia, infantile, 1	2024-03-08	no assertion criteria provided	clinical testing