ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.385_412+5del (rs746482788)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411588 SCV000485776 likely pathogenic Smith-Lemli-Opitz syndrome 2016-02-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000734341 SCV000862472 pathogenic not provided 2018-07-23 criteria provided, single submitter clinical testing
Invitae RCV000411588 SCV000945030 likely pathogenic Smith-Lemli-Opitz syndrome 2018-11-30 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing part of exon 5 (c.385_412+5del) of the DHCR7 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with DHCR7-related disease. ClinVar contains an entry for this variant (Variation ID: 370449). Loss of function variants in DHCR7 are known to be pathogenic (PMID: 10677299, 9634533, 15776424). 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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