ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.902A>G (p.His301Arg) (rs1565586067)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000730533 SCV000858278 pathogenic not provided 2017-11-29 criteria provided, single submitter clinical testing
Invitae RCV001027946 SCV001220105 pathogenic Smith-Lemli-Opitz syndrome 2019-05-06 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 301 of the DHCR7 protein (p.His301Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another DHCR7 variant in individuals with clinical features of Smith-Lemli-Opitz syndrome (PMID: 15979035, 25533962, Invitae). ClinVar contains an entry for this variant (Variation ID: 595087). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant disrupts the p.His301 amino acid residue in DHCR7. Other variant(s) that disrupt this residue have been observed in individuals with DHCR7-related conditions (PMID: 12818773), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Natera Inc RCV001027946 SCV001190683 uncertain significance Smith-Lemli-Opitz syndrome 2019-05-20 no assertion criteria provided clinical testing

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