Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000598351 | SCV000701154 | uncertain significance | not provided | 2017-01-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000598351 | SCV001986939 | uncertain significance | not provided | 2023-03-08 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003488711 | SCV004241737 | uncertain significance | not specified | 2023-12-27 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.80355C>A (p.Ser26785Arg) results in a non-conservative amino acid change located in the A-band region of the encoded protein sequence. Three of four in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 9.3e-06 in 1606588 control chromosomes in the gnomAD database (v4.0 dataset). To our knowledge, no occurrence of c.80355C>A in individuals affected with Limb-Girdle Muscular Dystrophy, Type 2J and no experimental evidence demonstrating its impact on protein function have been reported. Two 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. |