ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.919G>T (p.Val307Leu) (rs779794737)

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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 RCV000290127 SCV000332648 uncertain significance not provided 2015-07-14 criteria provided, single submitter clinical testing
Invitae RCV001341973 SCV001535870 uncertain significance Cholestanol storage disease 2020-10-21 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 307 of the CYP27A1 protein (p.Val307Leu). The valine residue is weakly conserved and there is a small physicochemical difference between valine and leucine. This variant is present in population databases (rs779794737, ExAC 0.03%). This variant has not been reported in the literature in individuals with CYP27A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 281718). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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