Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040059 | SCV000063750 | benign | not specified | 2017-08-10 | criteria provided, single submitter | clinical testing | c.23030-39TTTGT[7] in intron 89 of TTN: This variant is part of a 5-bp repeat ( TTTGT) and adds one repeat unit to the 6 present in the reference sequence. Alt hough this variant is located in the splice region, computational tools do not p redict an effect. This variant is not expected to have clinical significance bec ause similar variants within this repeat region have been identified in 0.4% ( 6 5/15162) of African chromosomes by the Genome Aggregation Database (gnomAD, http ://gnomad.broadinstitute.org; dbSNP rs79799565). Additionally, this variant has been identified in 231 individuals by our laboratory, at least 37 of which were found to have an alternate cause for disease. |
Gene |
RCV000040059 | SCV000236747 | benign | not specified | 2014-08-21 | criteria provided, single submitter | clinical testing | The variant is found in CARDIOMYOPATHY panel(s). |
Genetic Services Laboratory, |
RCV000040059 | SCV000249246 | likely benign | not specified | 2015-03-23 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000205385 | SCV000262475 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-09-11 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000373966 | SCV000423944 | likely benign | Tibial muscular dystrophy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000281725 | SCV000423945 | likely benign | Limb-girdle muscular dystrophy, recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000348484 | SCV000423946 | likely benign | Early-onset myopathy with fatal cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000313240 | SCV000423948 | likely benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000351759 | SCV000423949 | likely benign | Dilated Cardiomyopathy, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000769908 | SCV000901334 | benign | Cardiomyopathy | 2016-10-07 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000040059 | SCV001362649 | benign | not specified | 2019-08-19 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.23030-14_23030-10dupTTTGT alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.2 in 131482 control chromosomes in the gnomAD database, including 3533 homozygotes. The observed variant frequency is approximately 315 fold of the estimated maximal expected allele frequency for a pathogenic variant in TTN causing Cardiomyopathy phenotype (0.00063), strongly suggesting that the variant is benign. Five clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign. |
Eurofins Ntd Llc |
RCV000040059 | SCV000203730 | benign | not specified | 2014-01-13 | no assertion criteria provided | clinical testing |