ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.862G>A (p.Glu288Lys) (rs565893436)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674146 SCV000799433 likely pathogenic Smith-Lemli-Opitz syndrome 2018-04-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000593358 SCV000706841 uncertain significance not provided 2017-03-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000674146 SCV000915550 uncertain significance Smith-Lemli-Opitz syndrome 2018-10-05 criteria provided, single submitter clinical testing The DHCR7 c.862G>A (p.Glu288Lys) variant is a missense variant that has been reported in at least two clinical studies in individuals with Smith-Lemli-Opitz syndrome (Witsch-Baumgartner et al. 2001; Romano et al. 2005). Romano et al. (2005) identified the p.Glu288Lys variant in a compound heterozygous state with a second missense variant in one individual with a severe phenotype. Control data are unavailable for the p.Glu288Lys variant, which is reported at a frequency of 0.000016 in the Total population of the Genome Aggregation Database. Functional studies of this variant have not been conducted. The evidence for this variant is limited. The p.Glu288Lys variant is therefore classified as a variant of uncertain significance but suspicious for pathogenicity for Smith-Lemli-Opitz syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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