ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.90184A>T (p.Ile30062Phe)

dbSNP: rs931535269
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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 RCV002368753 SCV002660961 uncertain significance Cardiovascular phenotype 2019-04-01 criteria provided, single submitter clinical testing The p.I20997F variant (also known as c.62989A>T), located in coding exon 162 of the TTN gene, results from an A to T substitution at nucleotide position 62989. The isoleucine at codon 20997 is replaced by phenylalanine, an amino acid with highly similar 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.
Revvity Omics, Revvity RCV003138214 SCV003825914 uncertain significance not provided 2019-06-21 criteria provided, single submitter clinical testing

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