ClinVar Miner

Submissions for variant NM_014159.6(SETD2):c.1579A>G (p.Ile527Val) (rs373069098)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ITMI RCV000122021 SCV000086232 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000548869 SCV000655713 uncertain significance Luscan-lumish syndrome 2018-03-06 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 527 of the SETD2 protein (p.Ile527Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs373069098, ExAC 0.07%) but has not been reported in the literature in individuals with a SETD2-related disease. ClinVar contains an entry for this variant (Variation ID: 135209). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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