ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.73630C>T (p.Leu24544Phe)

gnomAD frequency: 0.00002  dbSNP: rs777417650
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002335034 SCV002639902 uncertain significance Cardiovascular phenotype 2019-09-12 criteria provided, single submitter clinical testing The p.L15479F variant (also known as c.46435C>T), located in coding exon 153 of the TTN gene, results from a C to T substitution at nucleotide position 46435. The leucine at codon 15479 is replaced by phenylalanine, an amino acid with highly similar properties. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV003481279 SCV004225816 uncertain significance not provided 2022-06-13 criteria provided, single submitter clinical testing

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