ClinVar Miner

Submissions for variant NM_000574.5(CD55):c.261G>A (p.Trp87Ter)

dbSNP: rs121909603
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001851912 SCV002242682 pathogenic not provided 2020-11-03 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has been reported as a Cromer blood group antigen (PMID: 7519480, 9675792), but has not been reported in individuals with CD55-related disease. This variant is also known as 314G>A and Trp53>Stop in the literature. ClinVar contains an entry for this variant (Variation ID: 16871). This sequence change creates a premature translational stop signal (p.Trp87*) in the CD55 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CD55 are known to be pathogenic (PMID: 28657829, 28657861).
OMIM RCV000018367 SCV000038646 affects Cromer blood group system 2017-08-30 no assertion criteria provided literature only

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