ClinVar Miner

Submissions for variant NM_014159.6(SETD2):c.5812G>A (p.Val1938Ile) (rs116417406)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ITMI RCV000122015 SCV000086226 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000652619 SCV000774490 uncertain significance Luscan-lumish syndrome 2017-08-24 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 1938 of the SETD2 protein (p.Val1938Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs116417406, ExAC 0.08%). This variant has not been reported in the literature in individuals with SETD2-related disease. ClinVar contains an entry for this variant (Variation ID: 135203). 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 isoleucine 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 and their clinical significance is uncertain. 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.

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