ClinVar Miner

Submissions for variant NM_000324.3(RHAG):c.808G>A (p.Val270Ile)

gnomAD frequency: 0.04007  dbSNP: rs16879498
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490272 SCV000267475 benign Rh-null, regulator type 2016-03-18 criteria provided, single submitter reference population
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV000490272 SCV001435283 benign Rh-null, regulator type criteria provided, single submitter research The homozygous p.Val270Ile variant in RHAG has been reported in an individual with cosanguineous parents and Rh-null syndrome (PMID: 10467273). Of note, this variant was found in cis with p.Gly280Arg in RHAG in this individual (PMID: 10467273). This variant has also been identified in >10% of South Asian chromosomes and 176 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for Rh-null syndrome.
Labcorp Genetics (formerly Invitae), Labcorp RCV002057061 SCV002340635 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV002057061 SCV002504086 likely benign not provided 2015-03-03 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Fulgent Genetics, Fulgent Genetics RCV002485373 SCV002799047 benign Rh-null, regulator type; Overhydrated hereditary stomatocytosis 2021-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002057061 SCV005226103 likely benign not provided criteria provided, single submitter not provided
GenomeConnect, ClinGen RCV000490272 SCV001338879 not provided Rh-null, regulator type no assertion provided phenotyping only Variant interpretted as Pathogenic and reported on 05-03-2012 by Lab or GTR ID 504843. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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