ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.93442T>C (p.Tyr31148His)

gnomAD frequency: 0.00006  dbSNP: rs373131310
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001580916 SCV001817531 likely benign not provided 2020-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002370236 SCV002667261 uncertain significance Cardiovascular phenotype 2020-01-10 criteria provided, single submitter clinical testing The p.Y22083H variant (also known as c.66247T>C), located in coding exon 166 of the TTN gene, results from a T to C substitution at nucleotide position 66247. The tyrosine at codon 22083 is replaced by histidine, an amino acid with 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.

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