ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102928G>A (p.Glu34310Lys)

gnomAD frequency: 0.00001  dbSNP: rs768930172
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002388631 SCV002672257 uncertain significance Cardiovascular phenotype 2020-06-16 criteria provided, single submitter clinical testing The p.E25245K variant (also known as c.75733G>A), located in coding exon 185 of the TTN gene, results from a G to A substitution at nucleotide position 75733. The glutamic acid at codon 25245 is replaced by lysine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002496016 SCV002780108 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 2021-10-22 criteria provided, single submitter clinical testing
Invitae RCV003771845 SCV004580217 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-02-15 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1284364). This missense change has been observed in individual(s) with arrhythmogenic cardiomyopathy (PMID: 30847666). This variant is present in population databases (rs768930172, gnomAD 0.0009%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 34310 of the TTN protein (p.Glu34310Lys).
Clinical Genetics, Academic Medical Center RCV001700835 SCV001920266 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700835 SCV001969176 uncertain significance not provided no assertion criteria provided clinical testing

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