ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.1139G>A (p.Cys380Tyr) (rs779709646)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169472 SCV000220916 likely pathogenic Smith-Lemli-Opitz syndrome 2014-11-25 criteria provided, single submitter literature only
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000169472 SCV000803782 likely pathogenic Smith-Lemli-Opitz syndrome 2017-10-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV000169472 SCV001163687 pathogenic Smith-Lemli-Opitz syndrome criteria provided, single submitter clinical testing
Invitae RCV000169472 SCV001225668 pathogenic Smith-Lemli-Opitz syndrome 2019-02-06 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 380 of the DHCR7 protein (p.Cys380Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be homozygous or in combination with another DHCR7 variant in several individuals affected with Smith Lemli Opitz syndrome (PMID: 10677299, 25405082, 15896653). ClinVar contains an entry for this variant (Variation ID: 189069). 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 C0"). This variant disrupts the p.Cys380 amino acid residue in DHCR7. Other variant(s) that disrupt this residue have been observed in individuals with DHCR7-related conditions (PMID: 15896653, 17441222), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001171660 SCV001334463 pathogenic not provided 2020-02-01 criteria provided, single submitter clinical testing

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