ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.915C>G (p.Tyr305Ter)

dbSNP: rs1555145867
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672544 SCV000797657 likely pathogenic Smith-Lemli-Opitz syndrome 2018-02-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000672544 SCV005743767 pathogenic Smith-Lemli-Opitz syndrome 2024-12-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr305*) in the DHCR7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DHCR7 are known to be pathogenic (PMID: 9634533, 10677299). This variant is not present in population databases (gnomAD no frequency). 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: 556525). For these reasons, this variant has been classified as Pathogenic.

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