ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.930G>A (p.Met310Ile)

gnomAD frequency: 0.00019  dbSNP: rs145924854
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen RCV002132655 SCV005375381 uncertain significance Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2024-04-23 reviewed by expert panel curation The c.930G>A (NM_000022.4) variant in ADA is a missense variant predicted to cause substitution of Methionine by Isoleucine at amino acid 310 (p.Met310Ile). The filtering allele frequency (the upper threshold of the 95% CI of 37/74916 alleles) of the c.930G>A variant in ADA is 0.0003682 for African/African American chromosomes by gnomAD v4, which is lower than the ClinGen SCID VCEP threshold for BS1 (>0.00161) and BA1 (>0.00721) but higher than the threshold (<0.0001742) for PM2_Supporting (BS1 not met, BA1 not met, PM2_Supporting not met). No homozygotes have been observed in gnomAD. To our knowledge, this variant has not been reported in the literature in individuals affected with ADA-related conditions or in functional studies. Due to insufficient evidence, this variant is classified as a variant of uncertain significance for autosomal recessive SCID based on ACMG/AMP criteria applied, as specified by the ClinGen SCID VCEP (specification version 1.0): No criteria were applied.
Labcorp Genetics (formerly Invitae), Labcorp RCV002132655 SCV002435236 likely benign Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2024-10-30 criteria provided, single submitter clinical testing

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