ClinVar Miner

Submissions for variant NM_000616.5(CD4):c.793C>T (p.Arg265Trp) (rs28919570)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000022781 SCV000044070 pathogenic Okt4 epitope deficiency 1993-09-01 no assertion criteria provided literature only
Reproductive Health Research and Development,BGI Genomics RCV000022781 SCV001142430 benign Okt4 epitope deficiency 2020-01-06 no assertion criteria provided curation NM_000616.4:c.793C>T (p.Arg265Trp) in the gene CD4 was reported as c.867G>A (p.Arg240Trp). Hodge et al reported this variant in a OKT4-Epitope deficiency patient (PMID: 1708753). In addition, Takenaka et al. reported homozygosity of this variant in patients with OKT4 epitope deficiency (PMID: 7689618). It has an allele frequency of 0.201 in African subpopulation in the gnomAD database. 516 homozygous occurrences are observed in the gnomAD database. This evidence suggests the variant to be classified as benign. ACMG/AMP criteria applied: BA1; BS2; PM3_Supporting; PP4.

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