ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.220A>T (p.Arg74Ter)

dbSNP: rs1554897861
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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 RCV000576149 SCV000671732 pathogenic Hereditary cancer-predisposing syndrome 2016-10-21 criteria provided, single submitter clinical testing The p.R74* pathogenic mutation (also known as c.220A>T), located in coding exon 4 of the PTEN gene, results from an A to T substitution at nucleotide position 220. This changes the amino acid from an arginine to a stop codon within coding exon 4. 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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