ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.83A>G (p.Glu28Gly)

dbSNP: rs1555889343
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000611614 SCV000712166 likely benign not specified 2016-06-07 criteria provided, single submitter clinical testing p.Glu28Gly of CCDC40: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, four mammals have a glycine (Gly) at this position despite high nearby amino acid con servation. In addition, computational prediction tools do not suggest a high lik elihood of impact to the protein. This variant was absent from large population studies.

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