ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.142A>G (p.Asn48Asp)

dbSNP: rs1859098707
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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 RCV001176399 SCV001340375 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV001176399 SCV002698484 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-06 criteria provided, single submitter clinical testing The p.N48D variant (also known as c.142A>G), located in coding exon 2 of the PTEN gene, results from an A to G substitution at nucleotide position 142. The asparagine at codon 48 is replaced by aspartic acid, an amino acid with highly similar properties. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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