ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.68083G>A (p.Ala22695Thr)

gnomAD frequency: 0.00001  dbSNP: rs767279296
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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 RCV000247862 SCV000319743 uncertain significance Cardiovascular phenotype 2015-06-11 criteria provided, single submitter clinical testing The p.A13630T variant (also known as c.40888G>A), located in coding exon 147 of the TTN gene, results from a G to A substitution at nucleotide position 40888. The alanine at codon 13630 is replaced by threonine, an amino acid with some similar properties. Based on data from ExAC, the A allele was reported in 2 of 120,472 total alleles (Exome Aggregation Consortium (ExAC), Cambridge, MA (URL: http://exac.broadinstitute.org) [Accessed June 11, 2015]). 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 6137 samples (12274 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species, except threonine is the reference amino acid in rat. 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 variant remains unclear.
GeneDx RCV000997416 SCV001776485 likely benign not provided 2020-08-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542946 SCV004791945 uncertain significance TTN-related disorder 2023-12-16 no assertion criteria provided clinical testing The TTN c.68083G>A variant is predicted to result in the amino acid substitution p.Ala22695Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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