ClinVar Miner

Submissions for variant NC_000010.11:g.(?_87952108)_(87958029_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001033437 SCV001196744 likely pathogenic PTEN hamartoma tumor syndrome 2019-05-18 criteria provided, single submitter clinical testing This variant disrupts the p.Arg173 amino acid residue in PTEN. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 17526800, 19265751, 20533527, 23335809, 24778394, 22628360). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has not been reported in the literature in individuals with PTEN-related conditions. This variant is an in-frame deletion of the genomic region encompassing exons 6-7 of the PTEN gene. It preserves the integrity of the reading frame. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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