Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172272 | SCV000051268 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000154926 | SCV000204608 | likely benign | not specified | 2017-12-06 | criteria provided, single submitter | clinical testing | proposed classification - variant undergoing re-assessment, contact laboratory |
Gene |
RCV000172272 | SCV000236779 | likely benign | not provided | 2020-10-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000234385 | SCV000286798 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000248442 | SCV000318037 | uncertain significance | Cardiovascular phenotype | 2013-01-06 | criteria provided, single submitter | clinical testing | There is insufficient or conflicting evidence for classification of this alteration. |
Illumina Laboratory Services, |
RCV000370118 | SCV000422083 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2017-11-07 | 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 rule this variant out of causing disease. Therefore, this variant is classified as benign. |
Illumina Laboratory Services, |
RCV000261085 | SCV000422084 | benign | Tibial muscular dystrophy | 2017-11-07 | 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 rule this variant out of causing disease. Therefore, this variant is classified as benign. |
Illumina Laboratory Services, |
RCV000316255 | SCV000422085 | likely benign | Dilated cardiomyopathy 1G | 2017-11-07 | 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, |
RCV000375502 | SCV000422086 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-11-07 | 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. |
Illumina Laboratory Services, |
RCV000262197 | SCV000422087 | uncertain significance | Early-onset myopathy with fatal cardiomyopathy | 2017-11-07 | 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. |
Eurofins Ntd Llc |
RCV000154926 | SCV000701002 | benign | not specified | 2017-01-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000172272 | SCV001152791 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | TTN: BS1 |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000154926 | SCV001362823 | uncertain significance | not specified | 2021-10-11 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.60733G>A (p.Glu20245Lys) results in a conservative amino acid change located in the A-Band region of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00033 in 248116 control chromosomes, predominantly at a frequency of 0.0075 within the Ashkenazi Jewish subpopulation in the gnomAD database. This frequency is about 12 times higher than expected for a pathogenic variant in TTN causing Cardiomyopathy (0.0075 vs 0.00063), suggesting a benign role for the variant of interest. To our knowledge, no occurrence of c.60733G>A in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Five ClinVar submitters (evaluation after 2014) cite the variant as benign/likely benign and three ClinVar submitters (evaluation after 2014) cite it as uncertain significance. Based on the evidence outlined above, the variant was classified as VUS-possibly benign. |