ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.14639C>T (p.Ala4880Val)

gnomAD frequency: 0.00014  dbSNP: rs373683445
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000249569 SCV000319082 uncertain significance Cardiovascular phenotype 2013-11-19 criteria provided, single submitter clinical testing The p.A3636V variant (also known as c.10907C>T) is located in coding exon 46 of the TTNgene. This alteration results from a C to T substitution at nucleotide position 10907. The alanine at codon 3636 is replaced by valine, an amino acid with some similar properties. Based on data from the NHLBI Exome Sequencing Project (ESP), the T-allele has an overall frequency of approximately:0.02% (2/11960), having been observed in0.05% (2/3742)of African American alleles, and not observed in 8218 of European American alleles studied.This variant was not reported in population-based cohorts in the Database of Single Nucleotide Polymorphisms (dbSNP) or the 1000 Genomes Project. Based on protein sequence alignment, this amino acid position is conserved through mammalians, but is not conserved in lower species.In addition, this alteration is predicted to be possibly damaging by PolyPhen in silicoanalysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
GeneDx RCV001546129 SCV001765593 likely benign not provided 2021-01-08 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001546129 SCV003820230 uncertain significance not provided 2019-05-09 criteria provided, single submitter clinical testing

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