ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.5870A>G (p.Asp1957Gly)

dbSNP: rs1553690289
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652624 SCV000774495 uncertain significance Luscan-Lumish syndrome 2017-09-10 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 1957 of the SETD2 protein (p.Asp1957Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine. 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SETD2-related disease. This variant is not present in population databases (ExAC no frequency).
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000652624 SCV002505840 uncertain significance Luscan-Lumish syndrome 2021-08-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000652624 SCV002555419 uncertain significance Luscan-Lumish syndrome 2022-03-15 criteria provided, single submitter clinical testing

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