Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000905110 | SCV001049675 | likely benign | Familial cold autoinflammatory syndrome 2 | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002264076 | SCV002542467 | uncertain significance | Autoinflammatory syndrome | 2019-06-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003910814 | SCV004724418 | uncertain significance | NLRP12-related disorder | 2023-11-09 | criteria provided, single submitter | clinical testing | The NLRP12 c.1820A>C variant is predicted to result in the amino acid substitution p.Gln607Pro. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.13% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/19-54313093-T-G). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Ambry Genetics | RCV004028555 | SCV004989657 | uncertain significance | Inborn genetic diseases | 2021-08-30 | criteria provided, single submitter | clinical testing | The c.1820A>C (p.Q607P) alteration is located in exon 3 (coding exon 3) of the NLRP12 gene. This alteration results from a A to C substitution at nucleotide position 1820, causing the glutamine (Q) at amino acid position 607 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |