ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.787+2T>A

dbSNP: rs1554937698
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV004815274 SCV001451583 likely pathogenic IMAGe syndrome 2020-05-14 criteria provided, single submitter clinical testing The CDKN1C c.820+2T>A variant occurs in a canonical splice site (donor) and is therefore predicted to disrupt or distort the normal gene product. A literature search was performed for the gene and cDNA change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database. This variant occurs adjacent to the PCNA binding domain in which missense variants have been implicated in disease (Eggermann et al. 2014). Based on the potential impact of this splice donor variant, its rarity and application of the ACMG criteria, the c.820+2T>A variant is classified as likely pathogenic for IMAGE syndrome.

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