ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2051C>G (p.Ala684Gly)

gnomAD frequency: 0.00001  dbSNP: rs753678830
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001340646 SCV001534469 uncertain significance Familial cold autoinflammatory syndrome 2 2022-08-16 criteria provided, single submitter clinical testing 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1037486). This variant has not been reported in the literature in individuals affected with NLRP12-related conditions. This variant is present in population databases (rs753678830, gnomAD 0.006%). This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 684 of the NLRP12 protein (p.Ala684Gly).

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