ClinVar Miner

Submissions for variant NM_004820.3(CYP7B1):c.440G>A (p.Gly147Asp) (rs754730601)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000441505 SCV000709596 uncertain significance not provided 2017-06-27 criteria provided, single submitter clinical testing
GeneDx RCV000441505 SCV000521340 likely pathogenic not provided 2016-08-28 criteria provided, single submitter clinical testing The G147D variant in the CYP7B1 gene has been reported previously as a pathogenic variant in an individual with hereditary spastic paraplegia who also harbored another CYP7B1 variant; however, as parental studies were not performed, the phase of these two variants could not be determined (Roos et al., 2014). This variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G147D 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. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Based on internal segregation data, we interpret G147D as a likely pathogenic variant.

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