ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.298C>T (p.Pro100Ser)

gnomAD frequency: 0.00041  dbSNP: rs200813801
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000884290 SCV000414563 benign Familial cold autoinflammatory syndrome 2 2018-01-12 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.
Invitae RCV000884290 SCV001027658 likely benign Familial cold autoinflammatory syndrome 2 2024-01-25 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263589 SCV002542534 uncertain significance Autoinflammatory syndrome 2017-05-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002521247 SCV003675842 uncertain significance Inborn genetic diseases 2021-09-01 criteria provided, single submitter clinical testing The c.298C>T (p.P100S) alteration is located in exon 2 (coding exon 2) of the NLRP12 gene. This alteration results from a C to T substitution at nucleotide position 298, causing the proline (P) at amino acid position 100 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003957696 SCV004774514 likely benign NLRP12-related disorder 2019-08-30 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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