ClinVar Miner

Submissions for variant NM_001199138.2(NLRC4):c.1328A>C (p.His443Pro)

dbSNP: rs606231460
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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 RCV001227277 SCV001399629 pathogenic Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 2019-08-21 criteria provided, single submitter clinical testing This sequence change replaces histidine with proline at codon 443 of the NLRC4 protein (p.His443Pro). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with familial cold autoinflammatory syndrome in a family (PMID: 25385754). This variant is also known as 1589A>C in the literature. ClinVar contains an entry for this variant (Variation ID: 161413). This variant has been reported to affect NLRC4 protein function (PMID: 25385754, 27974463, 29778503). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000148929 SCV000195817 pathogenic Familial cold autoinflammatory syndrome 4 2014-11-17 no assertion criteria provided literature only

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