ClinVar Miner

Submissions for variant NM_000324.3(RHAG):c.157+1G>A

gnomAD frequency: 0.00004  dbSNP: rs375508949
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003415695 SCV004107063 pathogenic RHAG-related disorder 2023-01-13 criteria provided, single submitter clinical testing The RHAG c.157+1G>A variant is predicted to disrupt the GT donor site and interfere with normal splicing. This variant was reported in the compound heterozygous state in a patient with Rh-deficiency syndrome, with functional studies indicating it disrupted normal splicing (Huang et al 1998. PubMed ID: 9716608). This variant is reported in 0.0062% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-49604368-C-T). Variants that disrupt the consensus splice donor site in RHAG are expected to be pathogenic. This variant is interpreted as pathogenic.
OMIM RCV000013936 SCV000034183 pathogenic Rh-null, regulator type 1998-10-01 no assertion criteria provided literature only

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