ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.36= (p.Val12=)

gnomAD frequency: 0.01530  dbSNP: rs394105
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082526 SCV000644841 benign Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2024-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590787 SCV000693971 benign not provided 2017-03-20 criteria provided, single submitter clinical testing Variant summary: The ADA c.36A>G (p.Val12Val) variant involves the alteration of a nucleotide, resulting in a synonymous change. 5/5 splicing prediction tools predict no significant change on the canonical splicing acceptor site, and 4/5 splice prediction tools predict loss/weaking effect on a splicing donor site. However, these predictions have yet to be confirmed by functional studies. This variant was found in 486/108934 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.05011 (457/9120). This frequency is about 31 times the estimated maximal expected allele frequency of a pathogenic ADA variant (0.001633), strong evidence that this is a benign polymorphism found primarily in the populations of African origin. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.

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