ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.1003del (p.Arg335fs)

dbSNP: rs1860633095
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001221612 SCV001393668 pathogenic PTEN hamartoma tumor syndrome 2023-02-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg335Aspfs*9) in the PTEN gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 69 amino acid(s) of the PTEN protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 30287823). ClinVar contains an entry for this variant (Variation ID: 950002). This variant disrupts a region of the PTEN protein in which other variant(s) (p.Glu390*) have been determined to be pathogenic (PMID: 10468583, 10866658, 11035045, 12297295, 24905788, 25336918, 25448482). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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