ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2905G>C (p.Ala969Pro)

dbSNP: rs754537076
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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 RCV001889735 SCV002146559 uncertain significance Familial cold autoinflammatory syndrome 2 2025-01-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 969 of the NLRP12 protein (p.Ala969Pro). This variant is present in population databases (rs754537076, gnomAD 0.03%). This missense change has been observed in individual(s) with NLRP12-related conditions (PMID: 33165748). ClinVar contains an entry for this variant (Variation ID: 1376777). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264412 SCV002542528 uncertain significance Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing

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