ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.2148G>C (p.Leu716Phe) (rs374600127)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414016 SCV000492074 uncertain significance not specified 2016-12-08 criteria provided, single submitter clinical testing The L716F variant in the GNPTAB gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The L716F variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The L716F variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In addition, this substitution occurs at a position that is not conserved across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, we interpret L716F as a variant of uncertain significance.

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