ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.4533G>C (p.Trp1511Cys) (rs777158229)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255224 SCV000321504 likely pathogenic not provided 2016-04-05 criteria provided, single submitter clinical testing The W1511C variant has been observed previously through whole exome sequencing in an individual reported as having an abnormality of the nervous system; however, no further information was provided (Retterer et al., 2015). A different missense variant in the same residue (W1511R) has been reported in association with a CC2D2A-related disorder (Shaheen et al., 2013). The W1511C variant was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This 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 the W1511C variant is probably damaging to the protein structure/function. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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