ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.51625G>A (p.Ala17209Thr)

gnomAD frequency: 0.00001  dbSNP: rs1292930837
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Phosphorus, Inc. RCV000577935 SCV000679966 uncertain significance Dilated cardiomyopathy 1G 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578013 SCV000679967 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578066 SCV000679968 uncertain significance Tibial muscular dystrophy 2017-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456273 SCV002737605 uncertain significance Cardiovascular phenotype 2020-08-18 criteria provided, single submitter clinical testing The p.A8144T variant (also known as c.24430G>A), located in coding exon 99 of the TTN gene, results from a G to A substitution at nucleotide position 24430. The alanine at codon 8144 is replaced by threonine, an amino acid with similar properties. This amino acid position is not 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.

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