ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.1076_1077dup (p.Leu360fs)

gnomAD frequency: 0.00003  dbSNP: rs1318653026
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001004589 SCV001163689 pathogenic Smith-Lemli-Opitz syndrome criteria provided, single submitter clinical testing
Invitae RCV001004589 SCV001592439 pathogenic Smith-Lemli-Opitz syndrome 2024-01-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu360Thrfs*54) in the DHCR7 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 116 amino acid(s) of the DHCR7 protein. This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with DHCR7-related conditions. ClinVar contains an entry for this variant (Variation ID: 813485). This variant disrupts a region of the DHCR7 protein in which other variant(s) (p.Lys376Argfs*37) have been determined to be pathogenic (PMID: 18006960). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001004589 SCV002811614 likely pathogenic Smith-Lemli-Opitz syndrome 2021-12-13 criteria provided, single submitter clinical testing

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