ClinVar Miner

Submissions for variant NM_005401.5(PTPN14):c.715A>T (p.Ile239Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV003455870 SCV004177040 uncertain significance Lymphedema-posterior choanal atresia syndrome 2023-09-15 criteria provided, single submitter clinical testing The PTPN14 c.715A>T (p.Ile239Phe) variant was identified at a near-heterozygous allelic fraction. This variant, to our knowledge, has not been reported in the medical literature. This variant is only observed on 1/152106 alleles in the general population (gnomAD v.3.1.2), indicating it is not a common variant. Computational predictors indicate that the variant is damaging; however, functional evidence that correlates with impact on PTPN14 function is lacking. Due to limited information and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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