ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.506C>T (p.Ser169Leu) (rs80338855)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756012 SCV000883711 pathogenic not provided 2017-11-08 criteria provided, single submitter clinical testing
Counsyl RCV000020437 SCV000678129 likely pathogenic Smith-Lemli-Opitz syndrome 2015-06-14 criteria provided, single submitter clinical testing
GeneReviews RCV000020437 SCV000040851 pathologic Smith-Lemli-Opitz syndrome 2007-10-24 no assertion criteria provided curation Converted during submission to Pathogenic.
Illumina Clinical Services Laboratory,Illumina RCV000020437 SCV000915552 uncertain significance Smith-Lemli-Opitz syndrome 2017-11-26 criteria provided, single submitter clinical testing The DHCR7 c.506C>T (p.Ser169Leu) missense variant has been reported in at least three studies in which it is found in a total of four individuals with Smith-Lemli-Opitz syndrome (SLOS) in a compound heterozygous state and in nine out of 1,037 disease-associated alleles, none of which were homozygotes, however further details of zygosity are not given (Bianconi et al. 2011; Sparks et al. 2014; Boland et al. 2016; Eroglu et al. (2017). The second variant in the compound heterozygotes was not stated in two of the individuals, was an intron variant in one individual with a mild phenotype and normal IQ and a splice region/intron variant in the fourth individual. The p.Ser169Leu variant is described as one of the 12 most frequent disease-causing variants found at a frequency of 1.7% in patients with SLOS (a total of 10 alleles) (Correa-Cerro et al. 2005; Nowaczyk et al. 2013). Control data are unavailable for this variant, which is reported at a frequency of 0.00012 in the European (non-Finnish) population of the Exome Aggregation Consortium. Based on the evidence, the p.Ser169Leu variant is classified as a variant of unknown 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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