ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.4550C>G (p.Thr1517Ser) (rs780673487)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414427 SCV000490456 likely pathogenic not provided 2016-09-14 criteria provided, single submitter clinical testing The Thr1517Ser missense change has not been published as a mutation or a benign variant, to our knowledge. The amino acid substitution is conservative as both Threonine and Serine are uncharged, polar amino acid residues. However, it alters a highly conserved residue in the C-terminal domain of the protein and other missense mutations in this region have been reported in association with CC2D2A- related disorders. In addition, in silico analysis predicts that Thr1517Ser likely has a damaging effect on protein structure/function. Therefore, based on the currently available information, Thr1517Ser is a strong candidate for a disease-causing mutation, although the possibility that it is a benign variant cannot be excluded.

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