ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.626C>T (p.Ser209Leu)

gnomAD frequency: 0.00002  dbSNP: rs372632047
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596421 SCV000702554 uncertain significance not provided 2016-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002368001 SCV002660021 uncertain significance Cardiovascular phenotype 2019-09-24 criteria provided, single submitter clinical testing The p.S209L variant (also known as c.626C>T), located in coding exon 4 of the TTN gene, results from a C to T substitution at nucleotide position 626. The serine at codon 209 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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