ClinVar Miner

Submissions for variant NM_005401.5(PTPN14):c.1754A>C (p.His585Pro)

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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 RCV005052241 SCV005685321 uncertain significance Lymphedema-posterior choanal atresia syndrome 2024-10-16 criteria provided, single submitter clinical testing A PTPN14 c.1754A>C (p.His585Pro) variant was identified at a near heterozygous allelic fraction of 48.78%, a frequency that may be consistent with germline origin. This variant, to our knowledge, has not been reported in the medical literature. This variant has been observed on 47/1,571,116 alleles in the general population (gnomAD v.4.1.0) and computational predictors are uncertain as to the impact of this variant on PTPN14 function. 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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