ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.683A>T (p.Asn228Ile)

dbSNP: rs748240670
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001186444 SCV001352847 uncertain significance Hereditary cancer-predisposing syndrome 2020-02-20 criteria provided, single submitter clinical testing This missense variant replaces asparagine with isoleucine at codon 228 of the PTEN protein. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001186444 SCV004055102 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-10 criteria provided, single submitter clinical testing The p.N228I variant (also known as c.683A>T), located in coding exon 7 of the PTEN gene, results from an A to T substitution at nucleotide position 683. The asparagine at codon 228 is replaced by isoleucine, an amino acid with dissimilar properties. In a massively parallel functional assay using a humanized yeast model, lipid phosphatase activity for this variant was wild-type-like (Mighell TL et al. Am J Hum Genet, 2018 May;102:943-955). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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