ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.4031A>C (p.Gln1344Pro)

dbSNP: rs755070193
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001058889 SCV001223487 uncertain significance Luscan-Lumish syndrome 2019-04-01 criteria provided, single submitter clinical testing This sequence change replaces glutamine with proline at codon 1344 of the SETD2 protein (p.Gln1344Pro). The glutamine residue is weakly conserved and there is a moderate physicochemical difference between glutamine and proline. 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The proline 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. This variant has not been reported in the literature in individuals with SETD2-related conditions. This variant is not present in population databases (ExAC no frequency).

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