ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.100G>C (p.Ala34Pro)

dbSNP: rs1589617199
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001016983 SCV001178000 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-24 criteria provided, single submitter clinical testing The p.A34P variant (also known as c.100G>C), located in coding exon 2 of the PTEN gene, results from a G to C substitution at nucleotide position 100. The alanine at codon 34 is replaced by proline, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV002551798 SCV003326613 uncertain significance PTEN hamartoma tumor syndrome 2022-03-07 criteria provided, single submitter clinical testing Experimental studies have shown that this missense change affects PTEN function (PMID: 32350270). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 822002). This variant has not been reported in the literature in individuals affected with PTEN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 34 of the PTEN protein (p.Ala34Pro).
Myriad Genetics, Inc. RCV003316820 SCV004018589 likely pathogenic Cowden syndrome 1 2023-04-21 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 32350270]. This variant is expected to disrupt protein structure [Myriad internal data].

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