ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11567A>G (p.Asn3856Ser)

gnomAD frequency: 0.00002  dbSNP: rs765523683
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185290 SCV000238165 uncertain significance not specified 2013-11-27 criteria provided, single submitter clinical testing Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in CARDIOMYOPATHY panel(s).
Ambry Genetics RCV000617512 SCV000735454 uncertain significance Cardiovascular phenotype 2016-07-21 criteria provided, single submitter clinical testing The p.N3493S variant (also known as c.10478A>G), located in coding exon 44 of the TTN gene, results from an A to G substitution at nucleotide position 10478. The asparagine at codon 3493 is replaced by serine, an amino acid with highly similar properties, and is located in the I-band region of the N2-B isoform of the titin protein. This variant was previously reported in the SNPDatabase as rs765523683. Based on data from ExAC, the G allele has an overall frequency of less than 0.01% (2/105462). This variant was not reported in population based cohorts in the following databases: NHLBI Exome Sequencing Project (ESP) and 1000 Genomes Project. In the ESP, this variant was not observed in 6033 samples (12066 alleles) with coverage at this position. 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.
CeGaT Center for Human Genetics Tuebingen RCV000997554 SCV001153110 uncertain significance not provided 2019-03-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492856 SCV002792031 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 2021-10-26 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150079 SCV003838669 uncertain significance Cardiomyopathy 2021-07-14 criteria provided, single submitter clinical testing

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