ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2792A>G (p.Glu931Gly)

gnomAD frequency: 0.00002  dbSNP: rs566677129
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000347730 SCV000414520 likely benign Familial cold autoinflammatory syndrome 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Ambry Genetics RCV003258768 SCV003973979 uncertain significance Inborn genetic diseases 2023-04-18 criteria provided, single submitter clinical testing The c.2792A>G (p.E931G) alteration is located in exon 8 (coding exon 8) of the NLRP12 gene. This alteration results from a A to G substitution at nucleotide position 2792, causing the glutamic acid (E) at amino acid position 931 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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