ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.470T>C (p.Leu157Pro) (rs753960624)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Klinikum rechts der Isar RCV000578237 SCV000680188 pathogenic Smith-Lemli-Opitz syndrome 2017-11-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724648 SCV000700795 likely pathogenic not provided 2016-10-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV000578237 SCV001163334 pathogenic Smith-Lemli-Opitz syndrome criteria provided, single submitter clinical testing
Invitae RCV000578237 SCV001232299 pathogenic Smith-Lemli-Opitz syndrome 2019-12-09 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 157 of the DHCR7 protein (p.Leu157Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs753960624, ExAC 0.01%). This variant has been observed in individual(s) with Smith Lemli Opitz syndrome (PMID: 9653161, 15521979, 15805162, 20556518). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 488492). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000578237 SCV000793712 likely pathogenic Smith-Lemli-Opitz syndrome 2017-08-29 no assertion criteria provided clinical testing

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