Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000457085 | SCV000542826 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-10-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000608680 | SCV000721637 | likely benign | not specified | 2017-07-28 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Eurofins Ntd Llc |
RCV000727783 | SCV000855179 | uncertain significance | not provided | 2018-07-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002329022 | SCV002626988 | uncertain significance | Cardiovascular phenotype | 2020-03-19 | criteria provided, single submitter | clinical testing | The p.A13950V variant (also known as c.41849C>T), located in coding exon 151 of the TTN gene, results from a C to T substitution at nucleotide position 41849. The alanine at codon 13950 is replaced by valine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000608680 | SCV005039202 | uncertain significance | not specified | 2024-03-22 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.61340C>T (p.Ala20447Val) results in a non-conservative amino acid change located in the A-band region of the encoded protein sequence. Two of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4.4e-05 in 248356 control chromosomes (gnomAD v2.1). To our knowledge, no occurrence of c.61340C>T in individuals affected with Limb-Girdle Muscular Dystrophy, Type 2J and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 404970). Based on the evidence outlined above, the variant was classified as uncertain significance. |