ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.1342G>A (p.Glu448Lys) (rs80338864)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000020435 SCV000677965 likely pathogenic Smith-Lemli-Opitz syndrome 2015-06-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000790762 SCV000233038 pathogenic not provided 2013-08-13 criteria provided, single submitter clinical testing
GeneReviews RCV000020435 SCV000040848 pathologic Smith-Lemli-Opitz syndrome 2007-10-24 no assertion criteria provided curation Converted during submission to Pathogenic.
Integrated Genetics/Laboratory Corporation of America RCV000020435 SCV000697853 pathogenic Smith-Lemli-Opitz syndrome 2017-06-30 criteria provided, single submitter clinical testing Variant summary: The DHCR7 c.1342G>A (p.Glu448Lys) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a damaging outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 1/117588 control chromosomes at a frequency of 0.0000085, which does not exceed the estimated maximal expected allele frequency of a pathogenic DHCR7 variant (0.0043301). The variant has been reported in numerous SLOS patients both in the homozygous and compound heterozygous state, and is known as a common disease variant. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
OMIM RCV000020435 SCV000027390 pathogenic Smith-Lemli-Opitz syndrome 2003-09-15 no assertion criteria provided literature only

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