ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.4928A>G (p.Asn1643Ser)

dbSNP: rs1553694843
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652620 SCV000774491 uncertain significance Luscan-Lumish syndrome 2017-10-30 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 1643 of the SETD2 protein (p.Asn1643Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is not present in population databases (ExAC no frequency). 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.

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