ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.1018G>A (p.Val340Ile)

gnomAD frequency: 0.00075  dbSNP: rs148081697
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000551112 SCV000630071 benign Smith-Lemli-Opitz syndrome 2024-02-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314950 SCV000847369 uncertain significance Inborn genetic diseases 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, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Revvity Omics, Revvity RCV000551112 SCV003829079 uncertain significance Smith-Lemli-Opitz syndrome 2021-02-08 criteria provided, single submitter clinical testing

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