ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.634+1G>C (rs1114167622)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000490911 SCV000579961 pathogenic Hereditary cancer-predisposing syndrome 2017-02-22 criteria provided, single submitter clinical testing Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
Invitae RCV001053483 SCV001217748 pathogenic PTEN hamartoma tumor syndrome 2019-12-12 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 6 of the PTEN gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with PTEN-related disease (PMID: 23470840, 28677221). ClinVar contains an entry for this variant (Variation ID: 427620). Experimental studies have shown that this variant disrupts mRNA splicing (PMID:28677221). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PTEN are known to be pathogenic (PMID: 9467011, 21194675). For these reasons, this variant has been classified as Pathogenic.
Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute RCV000515962 SCV000579235 pathogenic Cowden syndrome 1 2017-05-26 no assertion criteria provided research

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