ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.1057del (p.Val353fs)

dbSNP: rs759720450
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666554 SCV000790862 likely pathogenic Smith-Lemli-Opitz syndrome 2017-04-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000666554 SCV000947771 pathogenic Smith-Lemli-Opitz syndrome 2024-07-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val353Trpfs*60) in the DHCR7 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 123 amino acid(s) of the DHCR7 protein. This variant is present in population databases (rs759720450, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with Smith-Lemli-Opitz syndrome (PMID: 11111101). ClinVar contains an entry for this variant (Variation ID: 551481). This variant disrupts a region of the DHCR7 protein in which other variant(s) (p.Tyr382*) have been determined to be pathogenic (Invitae). 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 RCV000666554 SCV005629828 likely pathogenic Smith-Lemli-Opitz syndrome 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000666554 SCV002093013 likely pathogenic Smith-Lemli-Opitz syndrome 2017-03-16 no assertion criteria provided clinical testing

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