ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.99-4G>A (rs140748737)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079662 SCV000111545 benign not specified 2013-04-16 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000428279 SCV000511366 likely benign not provided 2016-09-14 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000538327 SCV000630079 benign Smith-Lemli-Opitz syndrome 2019-12-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000428279 SCV000697861 benign not provided 2017-05-02 criteria provided, single submitter clinical testing Variant summary: The DHCR7 c.99-4G>A variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a polymorphism outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 628/37018 control chromosomes (8 homozygotes) at a frequency of 0.0169647, which is approximately 4 times the estimated maximal expected allele frequency of a pathogenic DHCR7 variant (0.0043301), suggesting this variant is likely a benign polymorphism. The variant of interest has been reported in affected individuals without strong evidence for causality. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. Taken together, this variant is classified as benign.
Ambry Genetics RCV000715533 SCV000846362 benign History of neurodevelopmental disorder 2016-03-13 criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000079662 SCV000864293 likely benign not specified 2017-07-05 criteria provided, single submitter clinical testing BS1, BP6; This alteration has an allele frequency that is greater than expected for the associated disease, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
Mendelics RCV000428279 SCV001135034 benign not provided 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000538327 SCV001157157 benign Smith-Lemli-Opitz syndrome 2019-06-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000538327 SCV001272046 likely benign Smith-Lemli-Opitz syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Natera Inc RCV000538327 SCV001190684 benign Smith-Lemli-Opitz syndrome 2019-05-20 no assertion criteria provided clinical testing

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