ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.208G>A (p.Gly70Ser)

gnomAD frequency: 0.00129  dbSNP: rs144512551
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153144 SCV000202605 likely benign not specified 2016-07-28 criteria provided, single submitter clinical testing
Invitae RCV001487990 SCV001692493 likely benign Smith-Lemli-Opitz syndrome 2021-07-26 criteria provided, single submitter clinical testing
GeneDx RCV000897661 SCV001786025 likely benign not provided 2021-06-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31981491, 15965973)
Genetic Services Laboratory, University of Chicago RCV000153144 SCV002065097 likely benign not specified 2021-07-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415645 SCV002727842 uncertain significance Inborn genetic diseases 2019-06-18 criteria provided, single submitter clinical testing The p.G70S variant (also known as c.208G>A), located in coding exon 2 of the DHCR7 gene, results from a G to A substitution at nucleotide position 208. The glycine at codon 70 is replaced by serine, an amino acid with similar properties. This variant has been reported in exome cohorts; however, clinical details were not provided (Cross JL et al. Clin. Genet., 2015 Jun;87:570-5). This amino acid position is poorly conserved in available 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 alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV001487990 SCV002799980 likely benign Smith-Lemli-Opitz syndrome 2021-10-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003917497 SCV004729689 likely benign DHCR7-related disorder 2022-07-05 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001487990 SCV002093071 likely benign Smith-Lemli-Opitz syndrome 2017-11-13 no assertion criteria provided clinical testing

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