Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000727833 | SCV000855263 | uncertain significance | not provided | 2018-06-25 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003987681 | SCV004804015 | uncertain significance | not specified | 2024-01-30 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.25346C>T (p.Ala8449Val) results in a non-conservative amino acid change located in the I-band of the encoded protein sequence. Two of three in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4.1e-06 in 245218 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.25346C>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: 592936). Based on the evidence outlined above, the variant was classified as uncertain significance. |