ClinVar Miner

Submissions for variant NM_014423.4(AFF4):c.2324G>C (p.Arg775Pro)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003141248 SCV003820528 uncertain significance Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 2019-10-25 criteria provided, single submitter clinical testing
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University RCV003319245 SCV003932385 uncertain significance Primary dilated cardiomyopathy 2023-06-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900969 SCV004716201 uncertain significance AFF4-related disorder 2024-08-26 no assertion criteria provided clinical testing The AFF4 c.2324G>C variant is predicted to result in the amino acid substitution p.Arg775Pro. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.042% of alleles in individuals of South Asian descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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