ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.719A>G (p.Asn240Ser) (rs148609143)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513933 SCV000609803 uncertain significance not provided 2017-05-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717470 SCV000848322 uncertain significance History of neurodevelopmental disorder 2018-01-24 criteria provided, single submitter clinical testing Insufficient evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000513933 SCV000861907 uncertain significance not provided 2018-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763769 SCV000894665 uncertain significance Smith-Lemli-Opitz syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000763769 SCV000947860 uncertain significance Smith-Lemli-Opitz syndrome 2019-01-30 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 240 of the DHCR7 protein (p.Asn240Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs148609143, ExAC 0.03%). This variant has not been reported in the literature in individuals with DHCR7-related conditions. ClinVar contains an entry for this variant (Variation ID: 445437). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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