ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.199G>A (p.Ala67Thr) (rs143999854)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717461 SCV000848313 uncertain significance History of neurodevelopmental disorder 2016-11-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Counsyl RCV000509217 SCV000799918 uncertain significance Smith-Lemli-Opitz syndrome 2018-05-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000681711 SCV000111531 uncertain significance not provided 2018-06-05 criteria provided, single submitter clinical testing
GeneDx RCV000079648 SCV000729508 likely benign not specified 2017-06-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
GenomeConnect, ClinGen RCV000509217 SCV000606908 not provided Smith-Lemli-Opitz syndrome no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Gharavi Laboratory,Columbia University RCV000681711 SCV000809164 likely pathogenic not provided 2018-09-16 no assertion criteria provided research
Invitae RCV000509217 SCV000933283 uncertain significance Smith-Lemli-Opitz syndrome 2018-10-19 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 67 of the DHCR7 protein (p.Ala67Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs143999854, ExAC 0.1%). This variant has not been reported in the literature in individuals with DHCR7-related disease. ClinVar contains an entry for this variant (Variation ID: 93714). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.