ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.538C>T (p.Arg180Cys)

gnomAD frequency: 0.00001  dbSNP: rs753185558
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000445605 SCV000537214 uncertain significance Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 2017-02-09 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001851114 SCV002139109 uncertain significance not provided 2021-04-12 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 variant has not been reported in the literature in individuals with SETD5-related conditions. ClinVar contains an entry for this variant (Variation ID: 393550). This sequence change replaces arginine with cysteine at codon 180 of the SETD5 protein (p.Arg180Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency).

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