ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.765C>T (p.Phe255=)

gnomAD frequency: 0.00011  dbSNP: rs200132007
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001000753 SCV001012350 likely benign Smith-Lemli-Opitz syndrome 2024-11-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000753 SCV001157804 uncertain significance Smith-Lemli-Opitz syndrome 2018-08-16 criteria provided, single submitter clinical testing The DHRC7 c.765C>T; p.Phe255Phe variant (rs200132007), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the non-Finnish European population with an overall allele frequency of 0.03% (41/126634 alleles) in the Genome Aggregation Database. This is a synonymous variant in a weakly conserved nucleotide, but computational analyses (Alamut v.2.11) predict that this variant may impact splicing by strengthening a cryptic splice acceptor site. If splicing occurs at this cryptic site, it would be predicted to remove 143 nucleotides and cause a frameshift; however, mRNA studies would be required to confirm this. Due to limited information, the clinical significance of the p.Phe255Phe variant is uncertain at this time.
Illumina Laboratory Services, Illumina RCV001000753 SCV001267479 uncertain significance 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV001546710 SCV001766277 likely benign not provided 2021-06-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390816 SCV002671804 likely benign Inborn genetic diseases 2022-10-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV001546710 SCV005330781 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing DHCR7: BP4, BP7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782586 SCV005395808 likely benign not specified 2024-09-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001000753 SCV001458010 uncertain significance Smith-Lemli-Opitz syndrome 2018-06-23 no assertion criteria provided clinical testing

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