ClinVar Miner

Submissions for variant NM_001081.3(CUBN):c.8894T>C (p.Phe2965Ser) (rs117620008)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508534 SCV000603274 uncertain significance not specified 2016-09-05 criteria provided, single submitter clinical testing
GeneDx RCV000766837 SCV000616693 uncertain significance not provided 2017-07-31 criteria provided, single submitter clinical testing The F2965S variant in the CUBN gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The F2965S variant is observed in 167/66388 (0.25%) alleles from individuals of non-Finnish European background, in the ExAC dataset (Lek et al., 2016). The F2965S 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. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret F2965S as a variant of uncertain significance.

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