ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3162del (p.His1054fs) (rs397515733)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035070 SCV000058710 pathogenic Familial multiple polyposis syndrome 2013-11-14 criteria provided, single submitter clinical testing The His1054fs variant in APC has now been identified by our laboratory in 1 Asia n adult with FAP and in four asymptomatic relatives under age 21. It has not be en identified in large population studies. This frameshift variant is predicted to alter the protein?s amino acid sequence beginning at position 1054 and lead t o a premature termination codon 2 amino acids downstream. This alteration is the n predicted to lead to a truncated or absent protein. Heterozygous loss of funct ion of the APC gene is an established disease mechanism in individuals with FAP. In summary, this variant meets our criteria to be classified as pathogenic (htt p://pcpgm.partners.org/LMM) based on the predicted impact on the protein.

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