ClinVar Miner

Submissions for variant NM_014762.4(DHCR24):c.1460G>A (p.Gly487Asp)

gnomAD frequency: 0.00001  dbSNP: rs776954529
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001546423 SCV001765938 uncertain significance not provided 2020-07-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001546423 SCV003262464 uncertain significance not provided 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 487 of the DHCR24 protein (p.Gly487Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs776954529, ExAC 0.07%). This variant has not been reported in the literature in individuals affected with DHCR24-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Revvity Omics, Revvity RCV003146216 SCV003829076 uncertain significance Desmosterolosis 2022-06-30 criteria provided, single submitter clinical testing

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