ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.1018G>A (p.Val340Ile) (rs148081697)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551112 SCV000630071 benign Smith-Lemli-Opitz syndrome 2020-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716528 SCV000847369 uncertain significance History of neurodevelopmental disorder 2016-08-03 criteria provided, single submitter clinical testing The p.V340I variant (also known as c.1018G>A), located in coding exon 7 of the DHCR7 gene, results from a G to A substitution at nucleotide position 1018. The valine at codon 340 is replaced by isoleucine, an amino acid with highly similar properties. This variant was previously reported in the SNPDatabase as rs148081697. Based on data from the NHLBI Exome Sequencing Project (ESP), the A allele has an overall frequency of approximately 0.01% (1/12982) total alleles studied, having been observed in 0.02% (1/4396) African American alleles. This amino acid position is not well conserved in available vertebrate species, and isoleucine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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