Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000549171 | SCV000643988 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-12-27 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000596692 | SCV000709354 | uncertain significance | not provided | 2017-06-14 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV004701627 | SCV005203971 | uncertain significance | not specified | 2024-06-24 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.90521G>A (p.Gly30174Asp) 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 3.2e-05 in 248898 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.90521G>A 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: 467703). Based on the evidence outlined above, the variant was classified as uncertain significance. |