ClinVar Miner

Submissions for variant NM_144687.3(NLRP12):c.1027C>T (p.Arg343Trp) (rs112159191)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000509371 SCV000607009 not provided Periodic fever syndrome no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Invitae RCV000819856 SCV000960539 uncertain significance Familial cold autoinflammatory syndrome 2 2018-10-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 343 of the NLRP12 protein (p.Arg343Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs112159191, ExAC 0.01%). This variant has not been reported in the literature in individuals with NLRP12-related disease. ClinVar contains an entry for this variant (Variation ID: 440985). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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