ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.89G>C (p.Gly30Ala) (rs200334114)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000449598 SCV000537708 pathogenic Smith-Lemli-Opitz syndrome 2016-09-14 criteria provided, single submitter clinical testing This heterozygous missense variant in the DHCR7 gene (autosomal recessive transmission) inherited from the mother was found to be present in combination with a second missense variant in the same gene (compound heterozygosity) in a young female patient with a severe form of ASD
Counsyl RCV000449598 SCV000800521 uncertain significance Smith-Lemli-Opitz syndrome 2017-05-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000728279 SCV000855832 uncertain significance not provided 2017-07-25 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000449598 SCV000697858 likely pathogenic Smith-Lemli-Opitz syndrome 2016-09-09 criteria provided, single submitter clinical testing Variant summary: The DHCR7 c.89G>C (p.Gly30Ala) variant involves the alteration of a conserved nucleotide. 4/4 in silico tools predict a damaging outcome for this substitution (SNPs&GO not captured due to low reliability index). This variant was found in 6/121512 control chromosomes at a frequency of 0.0000494, which does not exceed the estimated maximal expected allele frequency of a pathogenic DHCR7 variant (0.0043301). It was reported in Smith-Lemi-Optitz Syndrome patients in compound heterozygosity with other pathogenic variants indicating causality. In one family, the variant was shown to co-segregate with the disease further supporting a deleterious outcome (Haas_JIMD_2007). To our knowledge, the variant was not assessed for its impact on the function of the DHCR7 protein by in vivo/vitro functional studies at the time of classification. Taken together, the variant shows evidence for pathogenicity however; in the absence of functional studies the pathogenicity of the variant cannot be established with absolute certainty, therefore it was classified as Likely pathogenic.

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