ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.852C>A (p.Phe284Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000815482 SCV000955938 likely pathogenic Smith-Lemli-Opitz syndrome 2018-10-01 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 284 of the DHCR7 protein (p.Phe284Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another DHCR7 variant in several individuals affected with Smith-Lemli-Opitz syndrome (PMID: 16983147, 10814720). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000815482 SCV000027391 pathogenic Smith-Lemli-Opitz syndrome 2003-11-15 no assertion criteria provided literature only

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