ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1370C>T (p.Ala457Val)

gnomAD frequency: 0.00006  dbSNP: rs780402263
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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 RCV000619286 SCV000737270 uncertain significance Cardiovascular phenotype 2017-04-20 criteria provided, single submitter clinical testing The p.A457V variant (also known as c.1370C>T), located in coding exon 7 of the TTN gene, results from a C to T substitution at nucleotide position 1370. The alanine at codon 457 is replaced by valine, 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 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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