ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.106388G>C (p.Gly35463Ala)

gnomAD frequency: 0.00005  dbSNP: rs373369136
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713958 SCV000844609 uncertain significance not provided 2018-02-09 criteria provided, single submitter clinical testing
Invitae RCV001038347 SCV001201813 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-09-05 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 35463 of the TTN protein (p.Gly35463Ala). This variant is present in population databases (rs373369136, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with TTN-related conditions. ClinVar contains an entry for this variant (Variation ID: 586862). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant is located in the M band of TTN (PMID: 25589632). Variants in this region may be relevant for neuromuscular disorders, but have not been definitively shown to cause cardiomyopathy (PMID: 23975875). 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.
Ambry Genetics RCV002422623 SCV002676528 uncertain significance Cardiovascular phenotype 2018-10-31 criteria provided, single submitter clinical testing The p.G26398A variant (also known as c.79193G>C), located in coding exon 186 of the TTN gene, results from a G to C substitution at nucleotide position 79193. The glycine at codon 26398 is replaced by alanine, 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 RCV002485796 SCV002791924 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 2021-09-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000713958 SCV004237136 uncertain significance not provided 2023-03-16 criteria provided, single submitter clinical testing

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