ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.1349_1350delinsTG (p.Arg450Leu) (rs1591107040)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000808556 SCV000948666 pathogenic Smith-Lemli-Opitz syndrome 2019-11-11 criteria provided, single submitter clinical testing This sequence change replaces arginine with leucine at codon 450 of the DHCR7 protein (p.Arg450Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is reported as two separate entries in the ExAC population database (c.1349G>T, 0.002% and c.1350C>G, 0.002%). This missense change has been observed in combination with another pathogenic DHCR7 variant in several individuals affected with Smith-Lemli-Opitz syndrome (PMID: 22391996, 25405082,15896653, 16181459, 10405455). This missense change has been reported to affect DHCR7 protein function (PMID: 9714006, 10405455, 10677299). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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