Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000724998 | SCV000238290 | likely benign | not provided | 2021-06-04 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23396983) |
Invitae | RCV001086431 | SCV000286495 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000724998 | SCV000333078 | uncertain significance | not provided | 2018-09-11 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000329170 | SCV001475751 | benign | not specified | 2020-06-25 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000329170 | SCV002104069 | likely benign | not specified | 2022-02-07 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.17270A>G (p.Lys5757Arg) results in a conservative amino acid change located in the I-band region of the encoded protein sequence. Three of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00018 in 248682 control chromosomes, predominantly at a frequency of 0.0028 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 7 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. To our knowledge, no occurrence of c.17270A>G in individuals affected with Dilated Cardiomyopathy and 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 (Likely Benign/Benign, n=3; VUS, n=1). Based on the evidence outlined above, the variant was classified as likely benign. |
Revvity Omics, |
RCV000724998 | SCV003825598 | uncertain significance | not provided | 2022-06-13 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000724998 | SCV001978506 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000724998 | SCV001980133 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Practice for Gait Abnormalities, |
RCV002222434 | SCV002500848 | likely pathogenic | Tip-toe gait | no assertion criteria provided | clinical testing |