ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.1027-2A>T

dbSNP: rs1085308041
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003453622 SCV004189662 likely pathogenic Cowden syndrome 1 2023-10-09 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function. This variant has been reported in multiple individuals with clinical features of gene-specific disease [PMID: 19265751, 11052475, 21659347, 19968660, 27477328, 28677221].
MutSpliceDB: a database of splice sites variants effects on splicing, NIH RCV000786803 SCV000925695 not provided not provided no assertion provided in vitro

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