ClinVar Miner

Submissions for variant NM_005401.5(PTPN14):c.2596A>G (p.Met866Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004203097 SCV003699632 uncertain significance not specified 2022-10-03 criteria provided, single submitter clinical testing The c.2596A>G (p.M866V) alteration is located in exon 14 (coding exon 13) of the PTPN14 gene. This alteration results from a A to G substitution at nucleotide position 2596, causing the methionine (M) at amino acid position 866 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Clinical Genomics Laboratory, Washington University in St. Louis RCV003455755 SCV004177038 uncertain significance Lymphedema-posterior choanal atresia syndrome 2023-09-15 criteria provided, single submitter clinical testing The PTPN14 c.2596A>G (p.Met866Val) variant was identified at a near-heterozygous allelic fraction. This variant, to our knowledge, has not been reported in the medical literature. This variant has been reported in the ClinVar database as a germline variant of uncertain significance by one submitter (ClinVar ID: 2359361). Computational predictors suggest that the variant does not impact the 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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