ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.3361G>A (p.Ala1121Thr)

gnomAD frequency: 0.00003  dbSNP: rs1336548478
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534747 SCV000655735 uncertain significance Luscan-Lumish syndrome 2020-10-08 criteria provided, single submitter clinical testing 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 threonine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with a SETD2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with threonine at codon 1121 of the SETD2 protein (p.Ala1121Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. In summary, this variant has uncertain impact on SETD2 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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