ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.861C>A (p.Asn287Lys)

dbSNP: rs766495775
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675015 SCV000800442 likely pathogenic Smith-Lemli-Opitz syndrome 2018-06-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000675015 SCV002811643 likely pathogenic Smith-Lemli-Opitz syndrome 2024-04-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004748898 SCV005348489 likely pathogenic DHCR7-related disorder 2024-05-03 no assertion criteria provided clinical testing The DHCR7 c.861C>A variant is predicted to result in the amino acid substitution p.Asn287Lys. This variant has been reported, in the homozygous or presumed compound heterozygous state, in individuals with clinical and biochemical features consistent with Smith-Lemli-Opitz syndrome (SLOS) (Yu et al. 2000. PubMed ID: 10814720; Lee et al. 2013. PubMed ID: 23918729). This variant is reported in 0.0026% of alleles in individuals of European (Non-Finnish) descent in gnomAD. This variant is interpreted as likely pathogenic.

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