ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5152_5153delinsA (p.Ala1718fs) (rs1561598017)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780846 SCV000918456 likely pathogenic Familial multiple polyposis syndrome 2017-11-09 criteria provided, single submitter clinical testing Variant summary: The APC c.5152_5153delinsA (p.Ala1718LysfsX26) variant results in a premature termination codon at codon 1744 out of a total of 2844 amino acids, significantly shortening the protein. This variant is predicted to cause a truncated or absent APC protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Despite this variant being located in the last exon of the gene, numerous truncations downstream of this position have been classified as pathogenic by other clinical labs in ClinVar. One in silico tool predicts a damaging outcome for this variant. This variant is absent in 276144 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely pathogenic.

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