Total submissions: 2
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, |
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. |