Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000208117 | SCV000264272 | uncertain significance | Brugada syndrome | 2015-05-21 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000029158 | SCV000290321 | likely benign | Progressive familial heart block type IB | 2025-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001090742 | SCV000521220 | likely benign | not provided | 2020-03-31 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 21887725, 22750058, 26350513, 23382873, 27884173, 27207958, 28341588, 26820365) |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000029158 | SCV000745391 | uncertain significance | Progressive familial heart block type IB | 2017-11-07 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000990241 | SCV001141119 | uncertain significance | Progressive familial heart block, type 1A | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000029158 | SCV001295714 | uncertain significance | Progressive familial heart block type IB | 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Ambry Genetics | RCV002399335 | SCV002711587 | benign | Cardiovascular phenotype | 2018-12-03 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
ARUP Laboratories, |
RCV001090742 | SCV003799326 | uncertain significance | not provided | 2022-03-17 | criteria provided, single submitter | clinical testing | The p.Gly582Ser variant (rs172149856) has been previously reported in a cardiac conductive block patient who also carried the p.Ala432Thr variant but this variant has not been reported alone (Stallmeyer et al 2012). This variant is listed in the NHLBI GO Exome Sequencing Project with an overall population frequency of 0.07 percent and is listed in the Exome Aggregation Consortium Browser with an overall population frequency of 0.05 percent. The glycine at position 582 is moderately conserved (considering 15 species, Alamut v2.7.1) and computational analyses of the effects of the p.Gly582Ser variant on protein structure and function predict this variant to be benign (SIFT: tolerated, MutationTaster: polymorphism, PolyPhen-2: benign). Because the p.Gly582Ser variant has not been observed without the p.Ala432Thr variant there is not enough evidence to classify this variant with certainty. Pathogenic variants of TRPM4 are inherited in an autosomal dominant manner and are associated with progressive familial heart block, type IB (MIM: 604599). |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV004700278 | SCV005203361 | likely benign | not specified | 2024-07-21 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000029158 | SCV000051803 | pathogenic | Progressive familial heart block type IB | 2012-01-01 | no assertion criteria provided | literature only | |
Laboratory of Diagnostic Genome Analysis, |
RCV001090742 | SCV001800097 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV001090742 | SCV001920025 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001090742 | SCV001958157 | uncertain significance | not provided | no assertion criteria provided | clinical testing |