Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000868385 | SCV001009711 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001355526 | SCV001795427 | likely benign | not provided | 2019-01-15 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001355526 | SCV003826070 | uncertain significance | not provided | 2019-10-23 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001355526 | SCV004564266 | likely benign | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV001355526 | SCV001550439 | uncertain significance | not provided | no assertion criteria provided | clinical testing | The TTN p.Arg15328Cys variant was not identified in the literature nor was it identified in ClinVar, Cosmic or LOVD 3.0. The variant was identified in dbSNP (ID: rs370474301) and in control databases in 32 of 230026 chromosomes at a frequency of 0.000139 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: Ashkenazi Jewish in 16 of 5950 chromosomes (freq: 0.002689), East Asian in 5 of 18102 chromosomes (freq: 0.000276), Other in 1 of 5710 chromosomes (freq: 0.000175), European (non-Finnish) in 8 of 109478 chromosomes (freq: 0.000073), African in 1 of 23592 chromosomes (freq: 0.000042) and Latino in 1 of 26958 chromosomes (freq: 0.000037); it was not observed in the European (Finnish) and South Asian populations. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. Three out of three computational analyses (PolyPhen-2, BLOSUM, MutationTaster) suggest that the variant may impact the protein; however, this information is not predictive enough to assume pathogenicity. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance. |