ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3035_3037delinsT (p.Asn1012fs) (rs1554084650)

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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 RCV000588314 SCV000694024 likely pathogenic Familial multiple polyposis syndrome 2017-08-21 criteria provided, single submitter clinical testing Variant summary: The APC c.3035_3037delinsT (p.Asn1012Ilefs) variant results in a premature termination codon, predicted to cause a truncated or absent APC protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.3183_3187delACAAA (p.Gln1062X), and c.3927_3931delAAAGA (p.Glu1309fs)). This variant is absent in 121248 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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