ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.2341G>A (p.Val781Met) (rs183435240)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421294 SCV000530558 uncertain significance not provided 2017-01-19 criteria provided, single submitter clinical testing The V781M variant in the GNPTAB gene has been reported previously in an individual with stuttering, however it has not been seen in any cases of mucolipidosis (Raza et al., 2015). The V781M variant was not observed in approximately 6,500 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 V781M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret V781M as a variant of uncertain significance.

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