ClinVar Miner

Submissions for variant NM_000574.5(CD55):c.203G>A (p.Ser68Asn)

dbSNP: rs869312818
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Australian Red Cross Blood Service RCV000210242 SCV000266303 affects Cromer blood group system 2015-10-19 criteria provided, single submitter clinical testing Soluble CD55 (DAF) completely inhibited binding of the patient’s antibody to red cells, indicating that the antibody was associated with the Cromer blood group system. Standard serology tests excluded antibodies to other known blood groups. A homozygous nucleotide change c.203G>A was the only variation from the reference sequence for CROM (also called CD55). This change predicts a p.S68N (serine to asparagine) change in the DAF protein. The c.203G>A mutation is not listed among the polymorphisms on international databases nor on the ISBT blood group database. Sanger sequencing confirmed the c.2013A homozygous nucleotide change. Other Cromer system antigens such as Tcb and Tcc (52Leu, 52Pro), WES (82Arg) and CROM:--6 (Ile80Asn; also loss of a high frequency antigen) are located within 16 residues of this substitution.

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