ClinVar Miner

Submissions for variant NM_001199138.2(NLRC4):c.433C>T (p.His145Tyr)

gnomAD frequency: 0.00051  dbSNP: rs145273174
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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 RCV000879716 SCV001022765 benign Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 2023-10-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002539287 SCV003627544 uncertain significance Inborn genetic diseases 2022-03-29 criteria provided, single submitter clinical testing The c.433C>T (p.H145Y) alteration is located in exon 4 (coding exon 3) of the NLRC4 gene. This alteration results from a C to T substitution at nucleotide position 433, causing the histidine (H) at amino acid position 145 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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