ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.1057del (p.Val353fs) (rs759720450)

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Total submissions: 2
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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
Invitae RCV000666554 SCV000947771 likely pathogenic Smith-Lemli-Opitz syndrome 2019-01-15 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the DHCR7 gene (p.Val353Trpfs*60). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 123 amino acids of the DHCR7 protein. This variant is present in population databases (rs759720450, ExAC 0.002%). This variant has been observed in an individual affected with Smith-Lemli-Opitz syndrome (PMID: 11111101). ClinVar contains an entry for this variant (Variation ID: 551481). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant disrupts the p.Val466 amino acid residue in DHCR7. Other variant(s) that disrupt this residue have been observed in individuals with DHCR7-related conditions (PMID: 21990131, 22391996, 23042628), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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