ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.150+1del

dbSNP: rs878853644
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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 RCV000234329 SCV000283435 likely pathogenic Familial melanoma 2015-11-25 criteria provided, single submitter clinical testing While this particular variant has not been reported in the literature, truncating variants in CDKN2A are known to be pathogenic (PMID: 15146471, 16905682). In summary, this is a novel intronic variant at splice donor site that is expected to disrupt protein function. In the absence of segregation and functional data, this variant has been classified as Likely Pathogenic. This sequence change deletes 1 nucleotide and affects a donor splice site in intron 1. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product.

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