ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.1349A>T (p.Tyr450Phe)

dbSNP: rs1569335723
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000696252 SCV000824804 uncertain significance not provided 2019-05-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with KIAA2022-related disease. 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 phenylalanine 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 is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with phenylalanine at codon 450 of the KIAA2022 protein (p.Tyr450Phe). The tyrosine residue is highly conserved and there is a small physicochemical difference between tyrosine and phenylalanine.

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