ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.967A>C (p.Asn323His)

dbSNP: rs1589666149
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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 RCV001019615 SCV001180996 uncertain significance Hereditary cancer-predisposing syndrome 2019-07-22 criteria provided, single submitter clinical testing The p.N323H variant (also known as c.967A>C), located in coding exon 8 of the PTEN gene, results from an A to C substitution at nucleotide position 967. The asparagine at codon 323 is replaced by histidine, an amino acid with similar properties. This amino acid position is 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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