ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.51C>T (p.Gly17=)

gnomAD frequency: 0.00001  dbSNP: rs776713087
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001278601 SCV001672176 likely benign Smith-Lemli-Opitz syndrome 2021-09-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001532958 SCV001748778 likely benign not specified 2021-06-28 criteria provided, single submitter clinical testing Variant summary: DHCR7 c.51C>T alters a non-conserved nucleotide resulting in a synonymous change. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 8e-06 in 251496 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.51C>T in individuals affected with Smith-Lemli-Opitz Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as benign/likely benign, and one laboratory classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as likely benign.
Natera, Inc. RCV001278601 SCV001465628 uncertain significance Smith-Lemli-Opitz syndrome 2020-04-16 no assertion criteria provided clinical testing

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