ClinVar Miner

Submissions for variant NM_005401.5(PTPN14):c.2216C>T (p.Ala739Val)

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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 RCV004560376 SCV005047061 uncertain significance Lymphedema-posterior choanal atresia syndrome 2024-02-01 criteria provided, single submitter clinical testing The PTPN14 c.2216C>T (p.Ala739Val) variant was identified at a near heterozygous allele fraction of 49%, a frequency which may be consistent with it being of germline origin. This variant, to our knowledge, has not been reported in the medical literature. This variant is only observed on 38/1,613,146 alleles in the general population (gnomAD v4.0.0), indicating it is not a common variant. 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 the PTPN14 c.2216C>T (p.Ala739Val) variant is uncertain at this time.

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