ClinVar Miner

Submissions for variant NC_000019.10:g.(?_53823866)_(53824194_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001031229 SCV001194535 uncertain significance Familial cold autoinflammatory syndrome 2 2019-05-25 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 1 of the NLRP12 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the NLRP12 gene. This is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with NLRP12-related conditions. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in NLRP12 cause disease. 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.

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