ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.401T>C (p.Met134Thr) (rs1085308046)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Herman Laboratory,Nationwide Children's Hospital RCV000490616 SCV000579272 pathogenic PTEN hamartoma tumor syndrome 2017-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001021679 SCV001183326 pathogenic Hereditary cancer-predisposing syndrome 2017-10-25 criteria provided, single submitter clinical testing The p.M134T pathogenic mutation (also known as c.401T>C), located in coding exon 5 of the PTEN gene, results from a T to C substitution at nucleotide position 401. The methionine at codon 134 is replaced by threonine, an amino acid with similar properties. This alteration has been identified in several individuals with clinical features of a PTEN hamartoma tumor syndrome (PHTS) (McBride KL et al. Autism Res. 2010 Jun;3:137-41; Ngeow J et al. Gastroenterology. 2013 Jun;144:1402-9, 1409.e1-5; Busch RM et al. Genet. Med. 2013 Jul;15:548-53; Hansen-Kiss E et al. J. Med. Genet. 2017 Jul;54:471-478). Furthermore, this alteration has been shown to segregate with disease in several relatives from one family (McBride KL et al. Autism Res. 2010 Jun;3:137-41; Hansen-Kiss E et al. J. Med. Genet. 2017 Jul;54:471-478). Another alteration at the same codon, p.M134I, has also been found to segregate with disease in several individuals from a family presenting with clinical features of a PHTS (Busa T et al. Gene. 2013 Jan;512:194-7; Busa T et al. Eur. J. Paediatr. Neurol. 2015 Mar;19:188-92). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

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