ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.112C>T (p.Pro38Ser) (rs587780004)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000580831 SCV000686271 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-05 criteria provided, single submitter clinical testing
GeneDx RCV000505774 SCV000149492 likely pathogenic not provided 2014-03-17 criteria provided, single submitter clinical testing This variant is denoted as PTEN c.112C>T at the cDNA level, p.Pro38Ser (P38S) at the protein level, and results in the change of a Proline to a Serine (CCT>TCT). PTEN Pro38Ser been published as a somatic mutation in malignant melanoma but has not, to our knowledge, been published in the literature as either a germline pathogenic variant or a benign polymorphism. Importantly, missense pathogenic variants in neighboring codons (I32N, A34D, M35R, G36R, A39P, E43K) have been reported in the literature in association with PTEN-related disorders, according to HGMD. PTEN Pro38Ser was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Proline and Serine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution and is likely to affect protein integrity. PTEN Pro38Ser occurs at a position that is highly conserved across species and is located within the phosphatase tensin-type domain. Based on the currently available information, we consider PTEN Pro38Ser to be a likely pathogenic variant.

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