ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2754G>A (p.Leu918=)

dbSNP: rs61741347
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002220557 SCV002362536 likely benign Familial cold autoinflammatory syndrome 2 2023-11-10 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002220557 SCV004563561 uncertain significance Familial cold autoinflammatory syndrome 2 2023-11-08 criteria provided, single submitter clinical testing The NLRP12 c.2754G>A; p.Leu918= variant (rs61741347), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 1566788). This variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. This is a synonymous variant and computational analyses (Alamut Visual Plus v.1.5.1) predict that this variant does not alter splicing. However, since this variant is located within the minimal splice region, the clinical significance of this variant is uncertain at this time.

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