ClinVar Miner

Submissions for variant NC_000010.11:g.87957941del

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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 RCV000826203 SCV000967759 pathogenic PTEN hamartoma tumor syndrome 2018-04-27 criteria provided, single submitter clinical testing The p.Phe241fs variant in PTEN has been reported in one individual with PTEN-ham artoma tumor syndrome (PHTS) and eosinophilic gastrointestinal disorders (Hender son 2014), and was absent from large population studies. This variant is predict ed to cause a frameshift, which alters the protein?s amino acid sequence beginni ng at position 241 and leads to a premature termination codon 15 amino acids dow nstream. This alteration is then predicted to lead to a truncated or absent prot ein. Heterozygous loss of function of the PTEN gene is an established disease me chanism in PHTS. Additionally, two other variants at this position have been rep orted in individuals with macrocephaly and PTEN-related tumors (Marsh 1998, Buis son 2006). In summary, this variant meets criteria to be classified as pathogeni c for PHTS in an autosomal dominant manner based upon the predicted impact on th e protein. ACMG/AMP Criteria applied: PVS1, PMS2, PS4_Supporting.

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