ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.54115G>A (p.Asp18039Asn)

gnomAD frequency: 0.00004  dbSNP: rs765148928
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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 RCV000246090 SCV000318835 uncertain significance Cardiovascular phenotype 2013-07-26 criteria provided, single submitter clinical testing The p.D15471N variant (also known as c.46411G>A) is located in coding exon 228 of theTTNgene. This alteration results from a G to A substitution at nucleotide position 46411. The aspartic acid at codon 15471 is replaced by asparagine, an amino acid with highly similar properties. This variant was not reported in population-based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), the 1000 Genomes Project and the NHLBI Exome Sequencing Project (ESP). In the ESP, this variant was not observed in 6053 samples (12106 alleles) with coverage at this position. Based on protein sequence alignment, this amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be probably damaging by PolyPhen, yet tolerated by SIFT in silico analyses. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Invitae RCV000543552 SCV000643355 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-20 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001508475 SCV001714652 uncertain significance not provided 2019-09-16 criteria provided, single submitter clinical testing
GeneDx RCV001508475 SCV001813359 likely benign not provided 2020-05-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001508475 SCV003825584 uncertain significance not provided 2020-09-08 criteria provided, single submitter clinical testing

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