ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.25557C>T (p.Gly8519=)

gnomAD frequency: 0.00009  dbSNP: rs372320172
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726497 SCV000590378 uncertain significance not provided 2019-01-04 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the TTN gene. The c.24606 C>T variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 4/66516 (0.01%) alleles from individuals of European ancestry in the Exome Aggregation Consortium (ExAC) dataset (Lek et al., 2016; Exome Variant Server). This nucleotide substitution does not change the encoded amino acid and the cytosine (C) position is conserved through mammals. At least two in silico splice algorithms predict that this change results in abnormal gene splicing by activating a cryptic splice donor site for intron 86. However, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined. Finally, other truncating TTN variants have been reported in approximately 3% of control alleles and c.24606 C>T is not located in the A-band region of titin, where the majority of truncating pathogenic variants associated with DCM have been reported (Herman et al., 2012).
Eurofins Ntd Llc (ga) RCV000726497 SCV000701499 uncertain significance not provided 2016-10-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506205 SCV002816183 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 2021-08-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000726497 SCV004155256 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing TTN: BP4

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