ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.866C>T (p.Thr289Ile) (rs121909765)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000412788 SCV000490514 pathogenic not provided 2018-11-01 criteria provided, single submitter clinical testing The T289I variant in the DHCR7 gene has been reported previously in several individuals with a biochemically confirmed diagnosis of Smith-Lemli-Opitz syndrome who were also heterozygous for a second variant in DHCR7, including two brothers who exhibited developmental and behavioral findings, but only minor physical features of SLOS (Witsch-Baumgartner, et al., 2000; Krakowiak et al., 2000). The T289I variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The T289I variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. In summary, we interpret T289I to be a pathogenic variant.
OMIM RCV000007191 SCV000027387 pathogenic Smith-Lemli-Opitz syndrome 2001-04-22 no assertion criteria provided literature only
Counsyl RCV000007191 SCV000486161 likely pathogenic Smith-Lemli-Opitz syndrome 2016-04-06 no assertion criteria provided clinical testing

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