ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.72802C>T (p.Arg24268Cys)

gnomAD frequency: 0.00009  dbSNP: rs370474301
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Total submissions: 5
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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
GeneDx RCV001355526 SCV001795427 likely benign not provided 2019-01-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001355526 SCV003826070 uncertain significance not provided 2019-10-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001355526 SCV004564266 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System 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.

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