ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.1055G>A (p.Arg352Gln) (rs121909768)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000254828 SCV000321550 pathogenic not provided 2016-09-19 criteria provided, single submitter clinical testing The R352Q missense variant in the DHCR7 gene has been reported previously in association with SLOS in multiple patients and is a common variant in Japanese patients (Witsch- Baumgartner et al., 2000; Matsumoto et al. 2005). Furthermore, multiple missense variants at the same position (R352L, R342W) have also been reported in the Human Gene Mutation Database in association with SLOS (Stenson et al., 2014), supporting the functional importance of this region of the protein.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000254828 SCV000331534 pathogenic not provided 2015-07-31 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000007197 SCV000893239 pathogenic Smith-Lemli-Opitz syndrome 2018-10-31 criteria provided, single submitter clinical testing
Myriad Women's Health, Inc. RCV000007197 SCV001194167 pathogenic Smith-Lemli-Opitz syndrome 2019-12-17 criteria provided, single submitter clinical testing NM_001360.2(DHCR7):c.1055G>A(R352Q) is classified as pathogenic in the context of Smith-Lemli-Opitz syndrome and is associated with moderate or mild forms of this disease. Sources cited for classification include the following: PMID 16044199, 21696385, 20556518, 10677299 and 17441222. Classification of NM_001360.2(DHCR7):c.1055G>A(R352Q) is based on the following criteria: This is a well-established pathogenic variant in the literature that has been observed more frequently in patients with clinical diagnoses than in healthy populations. Please note: this variant was assessed in the context of healthy population screening.
OMIM RCV000007197 SCV000027393 pathogenic Smith-Lemli-Opitz syndrome 2005-01-01 no assertion criteria provided literature only

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