ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.486del (p.Asp162fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002340403 SCV002637395 pathogenic Hereditary cancer-predisposing syndrome 2020-07-06 criteria provided, single submitter clinical testing The c.486delC pathogenic mutation, located in coding exon 5 of the PTEN gene, results from a deletion of one nucleotide at nucleotide position 486, causing a translational frameshift with a predicted alternate stop codon (p.D162Efs*5). This alteration was identified in a 36 year old Japanese man who presented with focal cortical dysplasia, cobblestoning over the tongue, palmar pitting and macrocephaly (Adachi T et al. Intern. Med., 2018 Jan;57:97-99). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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