ClinVar Miner

Submissions for variant NM_001199138.2(NLRC4):c.478G>A (p.Ala160Thr)

gnomAD frequency: 0.00077  dbSNP: rs113631419
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652416 SCV000774286 likely benign Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 2024-01-20 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000652416 SCV002495867 uncertain significance Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 2021-03-30 criteria provided, single submitter clinical testing NLRC4 NM_021209.4 exon 4 p.Ala160Thr (c.478G>A): This variant has not been reported in the literature but is present in 0.1% (86/68034) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/2-32251386-C-T?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:542049). This variant amino acid Threonine (Thr) is present in >20 species including mammals and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263918 SCV002542415 benign Autoinflammatory syndrome 2022-04-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001701430 SCV004701476 benign not provided 2024-03-01 criteria provided, single submitter clinical testing NLRC4: BP4, BS1, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701430 SCV001926554 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701430 SCV001970677 likely benign not provided no assertion criteria provided clinical testing

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