Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001200569 | SCV000278932 | likely benign | not provided | 2021-02-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 32707200) |
Invitae | RCV000690646 | SCV000818343 | likely benign | Cryopyrin associated periodic syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000213778 | SCV001365745 | uncertain significance | not specified | 2019-06-28 | criteria provided, single submitter | clinical testing | The p.Ala77Val variant in NLRP3 has not been previously reported in individuals with hearing loss or Cryopyrin-associated periodic syndromes, but has been identified in 0.01% (6/30606) of South Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). This variant has also been reported in ClinVar (Variation ID 234286). Computational prediction tools and conservation analysis suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: BP4. |
Ce |
RCV001200569 | SCV001371566 | uncertain significance | not provided | 2020-04-01 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002262812 | SCV002542618 | uncertain significance | Autoinflammatory syndrome | 2021-04-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002519742 | SCV003715615 | uncertain significance | Inborn genetic diseases | 2020-11-20 | criteria provided, single submitter | clinical testing | The c.230C>T (p.A77V) alteration is located in exon 1 (coding exon 1) of the NLRP3 gene. This alteration results from a C to T substitution at nucleotide position 230, causing the alanine (A) at amino acid position 77 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV004532810 | SCV004118390 | uncertain significance | NLRP3-related disorder | 2023-01-05 | criteria provided, single submitter | clinical testing | The NLRP3 c.230C>T variant is predicted to result in the amino acid substitution p.Ala77Val. This variant was reported in an individual with presumed ocular histoplasmosis syndrome (POHS, Li et al. 2020. PubMed ID: 32707200). This variant is reported in 0.020% of alleles in individuals of South Asian descent in gnomAD, which may be too common to be causative of autosomal dominant disorders (http://gnomad.broadinstitute.org/variant/1-247582326-C-T). While we suspect 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. |