Total submissions: 14
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039896 | SCV000063587 | likely benign | not specified | 2012-01-24 | criteria provided, single submitter | clinical testing | p.Ser4523Asn in exon 56 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.4% (13/3160) of African American chromosomes by the NHLBI Exome Sequencing Project in a broad population (http:// evs.gs.washington.edu/EVS). |
Eurofins Ntd Llc |
RCV000039896 | SCV000114332 | likely benign | not specified | 2015-08-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001703894 | SCV000238239 | likely benign | not provided | 2020-03-16 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000462843 | SCV000555023 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000039896 | SCV000616008 | benign | not specified | 2016-10-28 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001703894 | SCV002049540 | likely benign | not provided | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839512 | SCV002100025 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839513 | SCV002100026 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839514 | SCV002100027 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839511 | SCV002100028 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000039896 | SCV002571885 | likely benign | not specified | 2022-08-08 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.13568G>A (p.Ser4523Asn) results in a conservative amino acid change in the encoded protein sequence. Four of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00031 in 248614 control chromosomes, predominantly at a frequency of 0.0047 within the African or African-American subpopulation in the gnomAD database. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 12-fold of the estimated maximal expected allele frequency for a pathogenic variant in TTN causing Dilated Cardiomyopathy phenotype (0.00039), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. c.13568G>A has been reported in the literature in individual(s) affected with Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (Fedida_2017). These report(s) do not provide unequivocal conclusions about association of the variant with Dilated Cardiomyopathy. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Six ClinVar submitters (evaluation after 2014) cite the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as likely benign. |
Clinical Genetics, |
RCV000039896 | SCV001979147 | benign | not specified | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV001703894 | SCV001979838 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Prevention |
RCV004534858 | SCV004731127 | likely benign | TTN-related disorder | 2021-01-27 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |