ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11687A>G (p.Asn3896Ser)

gnomAD frequency: 0.00001  dbSNP: rs1207560844
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000555341 SCV000642642 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-02-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618758 SCV000737158 uncertain significance Cardiovascular phenotype 2016-09-07 criteria provided, single submitter clinical testing The p.N3533S variant (also known as c.10598A>G), located in coding exon 44 of the TTN gene, results from an A to G substitution at nucleotide position 10598. The asparagine at codon 3533 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 not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6016 samples (12032 alleles) with coverage at this position. This amino acid position is highly 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.

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