ClinVar Miner

Submissions for variant NM_020529.3(NFKBIA):c.509C>T (p.Pro170Leu)

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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 RCV003053224 SCV003451897 likely benign Ectodermal dysplasia and immunodeficiency 2 2024-10-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004070322 SCV004988746 uncertain significance Inborn genetic diseases 2023-10-30 criteria provided, single submitter clinical testing The c.509C>T (p.P170L) alteration is located in exon 3 (coding exon 3) of the NFKBIA gene. This alteration results from a C to T substitution at nucleotide position 509, causing the proline (P) at amino acid position 170 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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