ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.972del (p.Asp326fs)

dbSNP: rs1860630701
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001045624 SCV001209488 pathogenic PTEN hamartoma tumor syndrome 2019-03-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the PTEN protein. Other variant(s) that disrupt this region (p.Arg335*) have been determined to be pathogenic (PMID: 24052722, 9467011, 10400993, 9399897, 10353779, 9399897, 11685670, 10749983, 10232405, 9399897, 23475934). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has been observed in individuals affected with Cowden syndrome or referred for PTEN genetic testing (PMID: 16773562, 21659347). This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the PTEN gene (p.Asp326Thrfs*18). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 78 amino acids of the PTEN protein.

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