ClinVar Miner

Submissions for variant NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser) (rs6068812)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children RCV000785821 SCV000924393 likely pathogenic not provided 2016-10-14 criteria provided, single submitter clinical testing
Invitae RCV000785821 SCV001209677 pathogenic not provided 2020-10-19 criteria provided, single submitter clinical testing This sequence change replaces leucine with serine at codon 409 of the CYP24A1 protein (p.Leu409Ser). The leucine residue is moderately conserved and there is a large physicochemical difference between leucine and serine. This variant is present in population databases (rs6068812, ExAC 0.1%). This variant has been reported as homozygous and compound heterozygous in multiple individuals with hypercalcemia and/or nephrolithiasis (PMID: 21675912, 26846157, 23470222, 26214117). ClinVar contains an entry for this variant (Variation ID: 29680). Experimental studies have shown that this missense change disrupts CYP24A1 enzyme activity (PMID: 21675912, 23423976). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000785821 SCV001246621 pathogenic not provided 2018-06-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000033210 SCV001300125 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.
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000033210 SCV001448825 likely pathogenic Hypercalcemia, infantile, 1 2019-07-08 criteria provided, single submitter clinical testing
OMIM RCV000033210 SCV000057056 pathogenic Hypercalcemia, infantile, 1 2011-11-03 no assertion criteria provided literature only

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