ClinVar Miner

Submissions for variant NM_014159.6(SETD2):c.500C>T (p.Pro167Leu) (rs78682369)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543864 SCV000655750 uncertain significance Luscan-lumish syndrome 2017-12-06 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 167 of the SETD2 protein (p.Pro167Leu). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs78682369, ExAC 0.02%). This variant has not been reported in the literature in individuals with SETD2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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