ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.1320+1G>A (rs139620148)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000253734 SCV000320643 uncertain significance Cardiovascular phenotype 2016-09-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
GeneDx RCV000578802 SCV000681183 uncertain significance not provided 2017-12-13 criteria provided, single submitter clinical testing The c.1320+1G>A variant in the ABCC9 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 8. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.1320+1G>A variant is observed in 24/275672 (0.0087%) alleles in large population cohorts (Lek et al., 2016). We interpret c.1320+1G>A as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000779100 SCV000915590 uncertain significance ABCC9-Related Disorders 2018-12-16 criteria provided, single submitter clinical testing This variant occurs in a canonical splice site (donor) and is therefore predicted to disrupt or distort the normal gene product. It was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018) and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score for this variant, it could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene and cDNA change. No publications were found based on this search. Due to the potential impact of splice donor variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for this disease.

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