ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.702_703delinsC (p.Glu235fs) (rs1131691831)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493538 SCV000582957 likely pathogenic not provided 2017-05-17 criteria provided, single submitter clinical testing The c.702_703delGGinsC variant in the PTEN gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This deletion causes a frameshift starting with codon Glutamic Acid 235, changes this amino acid to a Lysine residue and creates a premature Stop codon at position 21 of the new reading frame, denoted p.Glu235LysfsX21. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence, c.702_703delGGinsC is a strong candidate for a pathogenic variant. However, the possibility it could be a rare benign variant cannot be excluded.

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