ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2960G>A (p.Cys987Tyr)

gnomAD frequency: 0.00010  dbSNP: rs369502542
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000807340 SCV000947388 uncertain significance Familial cold autoinflammatory syndrome 2 2018-12-04 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with NLRP12-related conditions. This variant is present in population databases (rs369502542, ExAC 0.03%). This sequence change replaces cysteine with tyrosine at codon 987 of the NLRP12 protein (p.Cys987Tyr). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and tyrosine.
Illumina Laboratory Services, Illumina RCV000807340 SCV001290571 benign Familial cold autoinflammatory syndrome 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Ambry Genetics RCV004649333 SCV005144987 uncertain significance Inborn genetic diseases 2024-05-29 criteria provided, single submitter clinical testing The c.2960G>A (p.C987Y) alteration is located in exon 9 (coding exon 9) of the NLRP12 gene. This alteration results from a G to A substitution at nucleotide position 2960, causing the cysteine (C) at amino acid position 987 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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