Submissions for variant NM_144687.4(NLRP12):c.2072+2_2072+3insTT

dbSNP: rs104895565

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001002306	SCV001498071	uncertain significance	Familial cold autoinflammatory syndrome 2	2023-11-03	criteria provided, single submitter	clinical testing	This sequence change falls in intron 3 of the NLRP12 gene. It does not directly change the encoded amino acid sequence of the NLRP12 protein. It affects a nucleotide within the consensus splice site. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with NLRP12-related conditions. ClinVar contains an entry for this variant (Variation ID: 811868). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Mendelics	RCV002249613	SCV002518388	uncertain significance	not specified	2022-05-04	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002264140	SCV002542479	uncertain significance	Autoinflammatory syndrome	2021-05-12	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001002306	SCV002777973	uncertain significance	Familial cold autoinflammatory syndrome 2	2022-04-18	criteria provided, single submitter	clinical testing