ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1958+3A>T (rs879254032)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255192 SCV000322547 likely pathogenic not provided 2016-06-01 criteria provided, single submitter clinical testing This variant is denoted APC c.1958+3A>T or IVS15+3A>T and consists of a A>T nucleotide substitution at the +3 position of intron 15 of the APC gene. Multiple in silico models predict this variant to damage the nearby natural donor site and to possibly cause abnormal gene splicing; however, in the absence of RNA or functional studies, the actual effect of this variant is unknown.? This variant has not, to our knowledge, been published in the literature as pathogenic or benign. APC c.1958+3A>T was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The adenine (A) nucleotide that is altered is conserved in mammals. Based on currently available information, it is unclear whether APC c.1958+3A>T is pathogenic or benign. We consider it to be a variant of uncertain significance.

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