ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.3176G>A (p.Ser1059Asn)

dbSNP: rs558262802
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000785128 SCV000923690 uncertain significance Luscan-Lumish syndrome 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV000785128 SCV000951808 uncertain significance Luscan-Lumish syndrome 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 1059 of the SETD2 protein (p.Ser1059Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine. This variant is present in population databases (rs558262802, ExAC 0.07%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals affected with SETD2-related conditions. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Genome-Nilou Lab RCV000785128 SCV002553680 uncertain significance Luscan-Lumish syndrome 2022-03-15 criteria provided, single submitter clinical testing

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