ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.422A>C (p.His141Pro) (rs863224666)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000218521 SCV000275105 uncertain significance Hereditary cancer-predisposing syndrome 2015-04-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000197810 SCV000254527 pathogenic PTEN hamartoma tumor syndrome 2019-01-03 criteria provided, single submitter clinical testing This sequence change replaces histidine with proline at codon 141 of the PTEN protein (p.His141Pro). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with clinical features of PTEN-related disease, and shown to segregate with disease in two family members (Invitae). ClinVar contains an entry for this variant (Variation ID: 216422). This variant has been reported to affect PTEN protein function (PMID: 29706350, 29785012). This variant disrupts the p.His141 amino acid residue in PTEN. Other variant(s) that disrupt this residue have been observed in affected individuals (PMID: 25669429, Invitae), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.

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