ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.1210C>T (p.Arg404Cys) (rs61757582)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000007190 SCV000677961 pathogenic Smith-Lemli-Opitz syndrome 2015-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723830 SCV000700667 pathogenic not provided 2017-04-17 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000007190 SCV000893238 pathogenic Smith-Lemli-Opitz syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000007190 SCV000938503 pathogenic Smith-Lemli-Opitz syndrome 2018-12-05 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 404 of the DHCR7 protein (p.Arg404Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs61757582, ExAC 0.01%). This variant has been reported in multiple individuals affected with Smith–Lemli–Opitz syndrome (PMID: 15896653, 9653161, 12818773, 10677299). ClinVar contains an entry for this variant (Variation ID: 6788). This variant has been reported to affect DHCR7 protein function (PMID: 9653161). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000007190 SCV000027386 pathogenic Smith-Lemli-Opitz syndrome 2001-01-01 no assertion criteria provided literature only
GeneReviews RCV000007190 SCV000040846 pathologic Smith-Lemli-Opitz syndrome 2007-10-24 no assertion criteria provided curation Converted during submission to Pathogenic.

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