ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.94817G>A (p.Arg31606Gln)

gnomAD frequency: 0.00002  dbSNP: rs371840978
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997350 SCV001152644 uncertain significance not provided 2018-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363521 SCV002662393 uncertain significance Cardiovascular phenotype 2020-06-22 criteria provided, single submitter clinical testing The p.R22541Q variant (also known as c.67622G>A), located in coding exon 168 of the TTN gene, results from a G to A substitution at nucleotide position 67622. The arginine at codon 22541 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not 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.

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