ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.6241C>T (p.Leu2081Phe)

dbSNP: rs1553685117
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000528345 SCV000655760 uncertain significance Luscan-Lumish syndrome 2017-03-08 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 2081 of the SETD2 protein (p.Leu2081Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a SETD2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
GeneDx RCV001770481 SCV001994687 uncertain significance not provided 2019-04-04 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000528345 SCV002555364 uncertain significance Luscan-Lumish syndrome 2022-03-15 criteria provided, single submitter clinical testing

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