ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.6044G>A (p.Ser2015Asn)

gnomAD frequency: 0.00004  dbSNP: rs1366338930
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000688089 SCV000815686 uncertain significance Luscan-Lumish syndrome 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 2015 of the SETD2 protein (p.Ser2015Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine. This variant is not present in population databases (ExAC no frequency). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
New York Genome Center RCV000688089 SCV002506950 uncertain significance Luscan-Lumish syndrome 2021-05-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000688089 SCV002555397 uncertain significance Luscan-Lumish syndrome 2022-03-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003140085 SCV003819426 uncertain significance not provided 2019-10-24 criteria provided, single submitter clinical testing

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