ClinVar Miner

Submissions for variant NM_005401.5(PTPN14):c.1583C>T (p.Pro528Leu)

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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 RCV004560413 SCV005047142 uncertain significance Lymphedema-posterior choanal atresia syndrome 2024-04-01 criteria provided, single submitter clinical testing A PTPN14 c.1583C>T (p.Pro528Leu) variant was identified at a heterozygous allelic fraction of 49.8%, a frequency which may be consistent with germline origin. This variant has been reported in the literature in a single individual with Knobloch syndrome in a homozygous state (Caglayan AO et al., PMID: 25456301). It is observed on 314/1,614,040 alleles in the general population (gnomAD v.4.0.0) and computational predictors suggest that the variant does not impact 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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