ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.765C>T (p.Phe255=) (rs200132007)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001000753 SCV001012350 likely benign Smith-Lemli-Opitz syndrome 2019-12-31 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 Clinical Services Laboratory,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.

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