ClinVar Miner

Submissions for variant NM_000117.2(EMD):c.115_117del (p.Phe39del) (rs781959238)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727962 SCV000235911 uncertain significance not provided 2018-03-16 criteria provided, single submitter clinical testing The c.115_117delTTC variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The c.115_117delTTC variant results in deletion of nucleotides TTC, which maintains the reading frame and results in deletion of the Phenylalanine at position 39. The c.115_117delTTC variant was not observed in approximately 6,200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. In silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727962 SCV000855478 uncertain significance not provided 2017-07-07 criteria provided, single submitter clinical testing

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