ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.917C>T (p.Pro306Leu)

dbSNP: rs949584865
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000585549 SCV000692977 uncertain significance not provided 2017-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001206400 SCV001377708 uncertain significance Familial cold autoinflammatory syndrome 2 2021-04-09 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 306 of the NLRP12 protein (p.Pro306Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NLRP12-related conditions. ClinVar contains an entry for this variant (Variation ID: 493268). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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