ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.26C>T (p.Pro9Leu)

dbSNP: rs1553707534
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000533340 SCV000655723 uncertain significance Luscan-Lumish syndrome 2018-10-03 criteria provided, single submitter clinical testing 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. This sequence change replaces proline with leucine at codon 9 of the SETD2 protein (p.Pro9Leu). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and leucine. 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: "Deleterious"; PolyPhen-2: "Benign"; 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.

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