ClinVar Miner

Submissions for variant NM_020529.3(NFKBIA):c.532G>A (p.Ala178Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002584065 SCV002940571 benign Ectodermal dysplasia and immunodeficiency 2 2022-11-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002584064 SCV003563481 uncertain significance Inborn genetic diseases 2021-07-20 criteria provided, single submitter clinical testing The c.532G>A (p.A178T) alteration is located in exon 3 (coding exon 3) of the NFKBIA gene. This alteration results from a G to A substitution at nucleotide position 532, causing the alanine (A) at amino acid position 178 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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