ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.53903G>C (p.Arg17968Pro)

dbSNP: rs200100660
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554200 SCV000643350 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-03-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620805 SCV000737265 uncertain significance Cardiovascular phenotype 2017-06-16 criteria provided, single submitter clinical testing The p.R8903P variant (also known as c.26708G>C), located in coding exon 107 of the TTN gene, results from a G to C substitution at nucleotide position 26708. The arginine at codon 8903 is replaced by proline, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be possibly damaging and unknown by PolyPhen and SIFT in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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