ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.93089G>A (p.Arg31030Gln)

gnomAD frequency: 0.00001  dbSNP: rs766391515
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000548620 SCV000643905 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-05-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619827 SCV000735862 uncertain significance Cardiovascular phenotype 2017-06-02 criteria provided, single submitter clinical testing The p.R21965Q variant (also known as c.65894G>A), located in coding exon 166 of the TTN gene, results from a G to A substitution at nucleotide position 65894. The arginine at codon 21965 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly 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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