ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.58499C>T (p.Ser19500Phe)

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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 RCV002320591 SCV002607439 uncertain significance Cardiovascular phenotype 2020-09-25 criteria provided, single submitter clinical testing The p.S10435F variant (also known as c.31304C>T), located in coding exon 125 of the TTN gene, results from a C to T substitution at nucleotide position 31304. The serine at codon 10435 is replaced by phenylalanine, an amino acid with highly 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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