Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000507325 | SCV000605494 | uncertain significance | not specified | 2017-02-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000550489 | SCV000643722 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-06-13 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002496971 | SCV002783012 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2021-11-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003403193 | SCV004106026 | uncertain significance | TTN-related condition | 2022-12-21 | criteria provided, single submitter | clinical testing | The TTN c.79342G>A variant is predicted to result in the amino acid substitution p.Val26448Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0027% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179431517-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000507325 | SCV004223686 | uncertain significance | not specified | 2023-11-10 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.71638G>A (p.Val23880Met) results in a conservative amino acid change located in the A-band domain 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 1.2e-05 in 248198 control chromosomes (gnomAD). 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.71638G>A in individuals affected with Limb-Girdle Muscular Dystrophy, Type 2J and no experimental evidence demonstrating its impact on protein function have been reported. Three 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. |