ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.122C>T (p.Ala41Val) (rs761265690)

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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 RCV000307109 SCV000339647 uncertain significance not provided 2016-03-29 criteria provided, single submitter clinical testing
Invitae RCV000706484 SCV000835537 uncertain significance Smith-Lemli-Opitz syndrome 2018-03-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 41 of the DHCR7 protein (p.Ala41Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs761265690, ExAC 0.02%). This variant has not been reported in the literature in individuals with DHCR7-related disease. ClinVar contains an entry for this variant (Variation ID: 286285). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Ambry Genetics RCV000717334 SCV000848184 uncertain significance History of neurodevelopmental disorder 2016-11-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign)

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