ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.1341C>T (p.Asp447=)

gnomAD frequency: 0.00198  dbSNP: rs139721775
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000079642 SCV000111525 benign not specified 2013-04-16 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079642 SCV000307640 likely benign not specified criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000512660 SCV000608603 likely benign not provided 2022-01-01 criteria provided, single submitter clinical testing
Invitae RCV001084025 SCV000630072 benign Smith-Lemli-Opitz syndrome 2021-12-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000512660 SCV000697852 likely benign not provided 2017-05-02 criteria provided, single submitter clinical testing Variant summary: The DHCR7 c.1341C>T (p.Asp447Asp) variant involves the alteration of a non-conserved nucleotide causing a synonymous change and 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may eliminate ESE binding sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 399/117638 control chromosomes (6 homozygotes) at a frequency of 0.0033918, which does not exceed the estimated maximal expected allele frequency of a pathogenic DHCR7 variant (0.0043301).Review publications, Jira_2003 and Wareham_2000, classify the variant as a "polymorphism," along with a publication indicating the variant to have been found in a cohort of SLOS patients and classified it as "polymorphism," as well as suggesting the variant may have co-occurred with a deleterious DHCR7 variant. In addition, multiple clinical diagnostic laboratories classified this variant as "likely benign/benign." Taken together, this variant is classified as "likely benign."
Ambry Genetics RCV000716136 SCV000846972 likely benign History of neurodevelopmental disorder 2016-06-16 criteria provided, single submitter clinical testing In silico models in agreement (benign) ;Synonymous alterations with insufficient evidence to classify as benign
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000512660 SCV000883710 benign not provided 2018-01-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001084025 SCV001270466 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000512660 SCV001870577 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28972118)
Genetic Services Laboratory,University of Chicago RCV000079642 SCV002069428 benign not specified 2019-03-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000079642 SCV001978043 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000512660 SCV001980498 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001084025 SCV002092995 likely benign Smith-Lemli-Opitz syndrome 2017-03-28 no assertion criteria provided clinical testing

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