ClinVar Miner

Submissions for variant NM_001081.3(CUBN):c.10102A>G (p.Met3368Val) (rs767333853)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427784 SCV000536252 uncertain significance not provided 2017-01-10 criteria provided, single submitter clinical testing The M3368V variant in the CUBN gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The M3368V 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 M3368V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved across species, and in silico analysis predicts this variant likely does not alter the protein structure/function. As an alternate mechanism, multiple in silico algorithms predict that this sequence change might create an upstream cryptic splice donor site which may supplant the natural splice donor site in intron 63. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. We interpret M3368V as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000317510 SCV000361609 uncertain significance Megaloblastic anemia 2016-06-14 criteria provided, single submitter clinical testing

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