Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172265 | SCV000054943 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Ambry Genetics | RCV000252345 | SCV000318450 | uncertain significance | Cardiovascular phenotype | 2013-03-06 | criteria provided, single submitter | clinical testing | There is insufficient or conflicting evidence for classification of this alteration. |
Eurofins Ntd Llc |
RCV000172265 | SCV000336072 | uncertain significance | not provided | 2016-09-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000172265 | SCV001152765 | uncertain significance | not provided | 2019-06-01 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001330307 | SCV001521951 | uncertain significance | Myopathy, myofibrillar, 9, with early respiratory failure | 2020-11-05 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Revvity Omics, |
RCV000172265 | SCV003827275 | uncertain significance | not provided | 2019-10-10 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003987418 | SCV004804103 | uncertain significance | not specified | 2024-01-03 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.64240A>G (p.Asn21414Asp) results in a conservative amino acid change located in the A 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 8.5e-05 in 247984 control chromosomes (gnomAD). This frequency is not significantly higher than estimated for a pathogenic variant in TTN causing Limb-Girdle Muscular Dystrophy, Type 2J (8.5e-05 vs ND), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.64240A>G in individuals affected with Limb-Girdle Muscular Dystrophy, Type 2J and no experimental evidence demonstrating its impact on protein function have been reported. Four submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. |