ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.1342G>C (p.Glu448Gln) (rs80338864)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670693 SCV000795579 uncertain significance Smith-Lemli-Opitz syndrome 2017-11-09 criteria provided, single submitter clinical testing
GeneDx RCV001556238 SCV001777781 likely pathogenic not provided 2020-10-05 criteria provided, single submitter clinical testing Reported in a patient with SLOS in published literature (Witsch-Baumgartner et al., 2000); it is unclear whether a second variant was identified; The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 11767235, 11001806, 12914579, 11241839, 23042628, 11111101, 15670717, 16207203, 11175299, 10677299)

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