ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.1349G>A (p.Arg450His) (rs542266962)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674850 SCV000800251 uncertain significance Smith-Lemli-Opitz syndrome 2018-05-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718621 SCV000849485 uncertain significance History of neurodevelopmental disorder 2017-05-24 criteria provided, single submitter clinical testing The p.R450H variant (also known as c.1349G>A), located in coding exon 7 of the DHCR7 gene, results from a G to A substitution at nucleotide position 1349. The arginine at codon 450 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Illumina Clinical Services Laboratory,Illumina RCV000674850 SCV001268262 uncertain significance Smith-Lemli-Opitz syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV001556929 SCV001778601 likely pathogenic not provided 2020-09-02 criteria provided, single submitter clinical testing Identified by exome sequencing in one individual from a cohort of patients with autism, however additional clinical information on this patient was not provided and variant was listed as uncertain significance (Saskin et al., 2017).; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); 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: 28250423)

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