ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.906C>G (p.Phe302Leu) (rs80338858)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000020440 SCV000677951 likely pathogenic Smith-Lemli-Opitz syndrome 2015-06-06 criteria provided, single submitter clinical testing
GeneReviews RCV000020440 SCV000040855 pathologic Smith-Lemli-Opitz syndrome 2007-10-24 no assertion criteria provided curation Converted during submission to Pathogenic.
Invitae RCV000020440 SCV000754771 pathogenic Smith-Lemli-Opitz syndrome 2018-12-24 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 302 of the DHCR7 protein (p.Phe302Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is present in population databases (rs80338858, ExAC 0.009%). This variant has been reported as in combination with another DHCR7 variant in several individuals  affected with Smith-Lemli-Opitz syndrome, or SLOS (PMID: 10814720, 14981719, 12818773, 22226660, Invitae). ClinVar contains an entry for this variant (Variation ID: 21277). Experimental studies have shown that this missense change p.Phe302Leu has reduced enzyme activity in the cells of patients with SLOS (PMID: 15464432). For these reasons, this variant has been classified as Pathogenic.

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