ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1421C>T (p.Thr474Ile)

gnomAD frequency: 0.00004  dbSNP: rs370824987
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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 RCV000247160 SCV000319153 uncertain significance Cardiovascular phenotype 2013-10-30 criteria provided, single submitter clinical testing The p.T474I variant (also known as c.1421C>T) is located in coding exon 8 of the TTNgene. This alteration results from a C to T substitution at nucleotide position 1421. The threonine at codon 474 is replaced by isoleucine, an amino acid with some similar properties. This variant was not reported in population-based cohorts in theDatabase of Single Nucleotide Polymorphisms (dbSNP) or the1000 Genomes Project. Based on data from the NHLBI Exome Sequencing Project (ESP), the T-allele has an overall frequency of approximately 0.01% (1/13006), having been observed in 0.01% (1/8600) of European American alleles, and not observed in 4406 African American alleles studied.Based on protein sequence alignment, this amino acid position is not well conserved in available vertebrate species.In addition, this alteration is predicted to be benign by PolyPhen in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
GeneDx RCV001651298 SCV001871334 uncertain significance not provided 2021-01-21 criteria provided, single submitter clinical testing

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