ClinVar Miner

Submissions for variant NM_020529.3(NFKBIA):c.78G>A (p.Leu26=)

gnomAD frequency: 0.00037  dbSNP: rs8192285
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000341900 SCV000386633 benign Ectodermal dysplasia and immunodeficiency 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756439 SCV000884257 likely benign not provided 2017-12-01 criteria provided, single submitter clinical testing The p.Leu26Leu variant (rs8192285) does not alter the amino acid sequence of the NFKIA protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency in medical literature or in gene specific variation databases. This variant is listed in the Genome Aggregation Database (gnomAD) with an overall population frequency of 0.6 percent (identified on 94 out of 16,518 chromosomes, including 1 homozygote). Based on these observations, the p.Leu26Leu variant is likely to be benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000341900 SCV001730438 benign Ectodermal dysplasia and immunodeficiency 2 2024-01-03 criteria provided, single submitter clinical testing

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