ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.64720G>A (p.Ala21574Thr) (rs578085621)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000993467 SCV000714786 likely benign not provided 2019-02-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621472 SCV000737168 uncertain significance Cardiovascular phenotype 2016-09-15 criteria provided, single submitter clinical testing The p.A12509T variant (also known as c.37525G>A), located in coding exon 137 of the TTN gene, results from a G to A substitution at nucleotide position 37525. The alanine at codon 12509 is replaced by threonine, an amino acid with similar properties, and is located in the A-band region of the N2-B isoform of the titin protein. This variant was previously reported in the SNPDatabase as rs578085621. Based on data from ExAC, the A allele has an overall frequency of approximately 0.011% (11/104538). 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.
Athena Diagnostics Inc RCV000993467 SCV001146460 uncertain significance not provided 2019-02-04 criteria provided, single submitter clinical testing

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