ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.2822A>G (p.Lys941Arg)

gnomAD frequency: 0.00001  dbSNP: rs1398213134
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652617 SCV000774488 uncertain significance Luscan-Lumish syndrome 2021-11-30 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SETD2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 941 of the SETD2 protein (p.Lys941Arg). ClinVar contains an entry for this variant (Variation ID: 542222). 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. 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 arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function.

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