ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.6982C>G (p.Leu2328Val)

gnomAD frequency: 0.00001  dbSNP: rs1232434419
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001217481 SCV001389323 uncertain significance Luscan-Lumish syndrome 2020-09-17 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SETD2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This sequence change replaces leucine with valine at codon 2328 of the SETD2 protein (p.Leu2328Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine.

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