ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.742T>C (p.Trp248Arg)

dbSNP: rs886044494
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000339772 SCV000345155 uncertain significance not provided 2016-08-24 criteria provided, single submitter clinical testing
Counsyl RCV000671730 SCV000796740 uncertain significance Smith-Lemli-Opitz syndrome 2017-12-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001805002 SCV002051342 uncertain significance not specified 2021-12-23 criteria provided, single submitter clinical testing Variant summary: DHCR7 c.742T>C (p.Trp248Arg) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251306 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.742T>C has been reported in the literature in individuals affected with Smith-Lemli-Opitz Syndrome (Waye_2002, Wassif_2005). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two ClinVar submitters (evaluation after 2014) cite the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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