ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66118G>A (p.Asp22040Asn)

gnomAD frequency: 0.00002  dbSNP: rs560375322
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617262 SCV000736728 uncertain significance Cardiovascular phenotype 2016-11-30 criteria provided, single submitter clinical testing The p.D12975N variant (also known as c.38923G>A), located in coding exon 141 of the TTN gene, results from a G to A substitution at nucleotide position 38923. The aspartic acid at codon 12975 is replaced by asparagine, an amino acid with highly similar properties, and is located in the A-band region of the N2-B isoform of the titin protein. This amino acid position is 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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