ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.5632T>C (p.Phe1878Leu)

gnomAD frequency: 0.00001  dbSNP: rs138568145
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814865 SCV000955297 uncertain significance Luscan-Lumish syndrome 2018-07-21 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 1878 of the SETD2 protein (p.Phe1878Leu). The phenylalanine residue is moderately conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is present in population databases (rs138568145, ExAC 0.001%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but 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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