ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.3038A>G (p.Asp1013Gly)

gnomAD frequency: 0.00001  dbSNP: rs769034482
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241164 SCV001414161 uncertain significance Luscan-Lumish syndrome 2019-10-15 criteria provided, single submitter clinical testing 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 are either unavailable or 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 conditions. This variant is present in population databases (rs769034482, ExAC 0.002%). This sequence change replaces aspartic acid with glycine at codon 1013 of the SETD2 protein (p.Asp1013Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine.

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