Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000173721 | SCV000224869 | benign | not specified | 2015-06-01 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000173721 | SCV000270834 | likely benign | not specified | 2016-02-24 | criteria provided, single submitter | clinical testing | The p.Trp552Arg variant in SCNN1A is prevalent in the general population with fr equencies up to 2.5% (413/16512) of South Asian chromosomes and 2.1% (1433/66734 ) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac .broadinstitute.org; dbSNP rs5742912). While common, this variant has been claim ed to increase the risk of ischemic cerebrovascular events and cystic fibrosis-l ike clinical features up to 2 fold, particularly in carriers of a pathogenic CFT R variant, though these data are conflicting (Hsieh 2005, Azad 2009, Handschick 2012). In vitro functional studies provide some evidence that the p.Trp552Arg va riant may impact protein function, however these types of assays may not accurat ely reflect biological function. In summary, this variant is not expected to cau se disease on its own but a modifying role cannot be excluded. |
Prevention |
RCV000173721 | SCV000306088 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000264087 | SCV000380735 | likely benign | Pseudohypoaldosteronism, type IB1, autosomal recessive | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Laboratory Services, |
RCV000009851 | SCV000380736 | likely benign | Bronchiectasis with or without elevated sweat chloride 2 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Gene |
RCV001528586 | SCV001837189 | benign | not provided | 2021-04-05 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26453628, 26668308, 26764160, 15734793, 21917531, 20194130, 19462466) |
Labcorp Genetics |
RCV001528586 | SCV003244105 | benign | not provided | 2025-01-28 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001528586 | SCV005213692 | likely benign | not provided | criteria provided, single submitter | not provided | ||
OMIM | RCV000009851 | SCV000030072 | pathogenic | Bronchiectasis with or without elevated sweat chloride 2 | 2009-07-01 | no assertion criteria provided | literature only | |
Diagnostic Laboratory, |
RCV001528586 | SCV001740547 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000173721 | SCV001928506 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000173721 | SCV001957274 | benign | not specified | no assertion criteria provided | clinical testing |