ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.2407A>T (p.Thr803Ser)

gnomAD frequency: 0.00003  dbSNP: rs375673884
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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 RCV001347927 SCV001542208 uncertain significance not provided 2017-07-14 criteria provided, single submitter clinical testing 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. This sequence change replaces threonine with serine at codon 803 of the SETD5 protein (p.Thr803Ser). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and serine. This variant is present in population databases (rs375673884, ExAC 0.01%). This variant has not been reported in the literature in individuals with SETD5-related disease. 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 serine 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.

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