ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.14C>A (p.Ala5Glu)

gnomAD frequency: 0.00004  dbSNP: rs761545315
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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 RCV000907030 SCV000414568 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.
Invitae RCV000907030 SCV001051707 likely benign Familial cold autoinflammatory syndrome 2 2024-01-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263591 SCV002543578 likely benign Autoinflammatory syndrome 2021-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002521248 SCV003691801 uncertain significance Inborn genetic diseases 2022-04-25 criteria provided, single submitter clinical testing The c.14C>A (p.A5E) alteration is located in exon 1 (coding exon 1) of the NLRP12 gene. This alteration results from a C to A substitution at nucleotide position 14, causing the alanine (A) at amino acid position 5 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003940320 SCV004764245 likely benign NLRP12-related disorder 2019-11-04 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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