Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001087387 | SCV000555605 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000727401 | SCV000708239 | uncertain significance | not provided | 2017-05-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000727401 | SCV000728545 | likely benign | not provided | 2019-04-10 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26567375) |
Athena Diagnostics Inc | RCV000596356 | SCV001475002 | benign | not specified | 2020-07-31 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000596356 | SCV001983692 | likely benign | not specified | 2021-09-21 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.41702T>A (p.Leu13901His) results in a non-conservative amino acid change located in the A-Band of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00034 in 246398 control chromosomes, predominantly at a frequency of 0.0025 within the Latino subpopulation in the gnomAD database. The observed variant frequency within Latino control individuals in the gnomAD database is approximately 4 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 a benign polymorphism found primarily in populations of Latino origin. The variant was reported in a patient with DCM, without strong evidence for causality (Begay_2015). To our knowledge, no experimental evidence demonstrating its impact on protein function have been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Three submitters classified as likely benign/benign while one classified as VUS. Based on the evidence outlined above, the variant was classified as likely benign. |
Revvity Omics, |
RCV000727401 | SCV003825496 | uncertain significance | not provided | 2023-08-29 | criteria provided, single submitter | clinical testing |