ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.51682G>A (p.Ala17228Thr)

gnomAD frequency: 0.00004  dbSNP: rs369150143
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002450481 SCV002732726 uncertain significance Cardiovascular phenotype 2019-04-19 criteria provided, single submitter clinical testing The p.A8163T variant (also known as c.24487G>A), located in coding exon 99 of the TTN gene, results from a G to A substitution at nucleotide position 24487. The alanine at codon 8163 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be probably damaging and unknown by PolyPhen and SIFT in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV004790203 SCV005413088 uncertain significance not provided 2024-09-13 criteria provided, single submitter clinical testing

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