ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.651C>A (p.Tyr217Ter) (rs749076525)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000781323 SCV000919261 likely pathogenic Smith-Lemli-Opitz syndrome 2017-11-06 criteria provided, single submitter clinical testing Variant summary: The DHCR7 c.651C>A (p.Tyr217X) variant results in a premature termination codon, predicted to cause a truncated or absent DHCR7 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. One in silico tool predicts a damaging outcome for this variant. This variant was found in 2/246194 control chromosomes at a frequency of 0.0000081, which does not exceed the estimated maximal expected allele frequency of a pathogenic DHCR7 variant (0.0043301). The variant has been reported in at least one affected individual in the literature, but has not been reported by clinical labs/reputable databases. Taken together, this variant is classified as likely pathogenic.

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