ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.1504_1506del (p.Lys502del)

dbSNP: rs1403147116
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000626010 SCV000746619 uncertain significance Familial cold autoinflammatory syndrome 2 2017-08-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000626010 SCV002147855 uncertain significance Familial cold autoinflammatory syndrome 2 2021-10-05 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 522838). This variant has not been reported in the literature in individuals affected with NLRP12-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.1504_1506del, results in the deletion of 1 amino acid(s) of the NLRP12 protein (p.Lys502del), but otherwise preserves the integrity of the reading frame.

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