ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.355GAG[3] (p.Glu120dup)

dbSNP: rs1554653952
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000555007 SCV000637417 uncertain significance Familial melanoma 2017-07-22 criteria provided, single submitter clinical testing This variant, c.358_360dupGAG, results in the insertion of 1 amino acid residue to the CDKN2A (p16INK4a) protein (p.Glu120dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CDKN2A (p16INK4a)-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acid residue is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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