ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11959A>G (p.Ile3987Val) (rs551387805)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000252473 SCV000320474 uncertain significance Cardiovascular phenotype 2018-12-13 criteria provided, single submitter clinical testing The p.I3624V variant (also known as c.10870A>G), located in coding exon 44 of the TTN gene, results from an A to G substitution at nucleotide position 10870. The isoleucine at codon 3624 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and valine is the reference amino acid in other 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 variant remains unclear.
Invitae RCV000546848 SCV000642650 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-08-16 criteria provided, single submitter clinical testing
GeneDx RCV000615733 SCV000730231 likely benign not specified 2017-05-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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