ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2072+2dup

dbSNP: rs104895565
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000001664 SCV001416373 uncertain significance Familial cold autoinflammatory syndrome 2 2025-01-23 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. This variant is present in population databases (rs104895565, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. This variant has been observed in individual(s) with clinical features of familial cold autoinflammatory syndrome (PMID: 18230725, 31820221). This variant is also known as NALP12 c.2072+3insT. ClinVar contains an entry for this variant (Variation ID: 1597). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 18230725). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000084144 SCV001715298 uncertain significance not provided 2021-03-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262536 SCV002542480 likely pathogenic Autoinflammatory syndrome 2018-12-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000084144 SCV004142682 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing NLRP12: PP3, PS3:Supporting, BS1
OMIM RCV000001664 SCV000021820 pathogenic Familial cold autoinflammatory syndrome 2 2008-02-05 no assertion criteria provided literature only
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084144 SCV000116275 not provided not provided no assertion provided not provided

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