ClinVar Miner

Submissions for variant NM_014423.4(AFF4):c.516_518dup (p.Glu172_His173insGln)

dbSNP: rs755428630
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002535026 SCV003000296 uncertain significance Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 2022-08-31 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. ClinVar contains an entry for this variant (Variation ID: 591050). This variant has not been reported in the literature in individuals affected with AFF4-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.516_518dup, results in the insertion of 1 amino acid(s) of the AFF4 protein (p.Glu172_His173insGln), but otherwise preserves the integrity of the reading frame.
Gharavi Laboratory, Columbia University RCV000722226 SCV000853357 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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