ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.548del (p.Lys183fs)

dbSNP: rs1554900593
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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 RCV000566333 SCV000674629 pathogenic Hereditary cancer-predisposing syndrome 2018-10-31 criteria provided, single submitter clinical testing The c.548delA pathogenic mutation, located in coding exon 6 of the PTEN gene, results from a deletion of one nucleotide at nucleotide position 548, causing a translational frameshift with a predicted alternate stop codon (p.K183Rfs*16). This mutation (designated as c.546delA) was reported in an individual with macrocephaly and developmental delay/autism spectrum disorder (Yeung KS et al. Mol. Autism 2017 Dec;8:66). 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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