ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.55_56delinsTT (p.Asp19Phe)

dbSNP: rs1589596354
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001024195 SCV001186167 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-12 criteria provided, single submitter clinical testing The c.55_56delGAinsTT variant (also known as p.D19F), located in coding exon 1 of the PTEN gene, results from an in-frame deletion of GA and insertion of TT at nucleotide positions 55 to 56. This results in the substitution of the aspartic acid residue for a phenylalanine residue at codon 19, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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