ClinVar Miner

Submissions for variant NM_024741.3(ZNF408):c.1546C>T (p.Arg516Trp)

gnomAD frequency: 0.00001  dbSNP: rs754950117
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001240837 SCV001413813 uncertain significance not provided 2019-10-15 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but 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 ZNF408-related conditions. This variant is present in population databases (rs754950117, ExAC 0.006%). This sequence change replaces arginine with tryptophan at codon 516 of the ZNF408 protein (p.Arg516Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004813981 SCV005072520 uncertain significance Retinal dystrophy 2020-01-01 no assertion criteria provided clinical testing

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