ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.30181A>C (p.Lys10061Gln) (rs184153985)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040099 SCV000063790 uncertain significance not specified 2013-06-27 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Lys8817Gln vari ant in TTN has been identified by our laboratory in 1 Black individual with isol ated right atrial enlargement and 1 Black individual with HCM (LMM unpublished d ata). It has also been identified in 1.1% (2/176) of Yoruba chromosomes by the 1 000 Genomes Project (dbSNP rs184153985) and 3/3884 African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). Lysin e (Lys) at position 8817 is not completely conserved and 2 fish (tetradon and fu gu) carry a glutamine (Gln; this variant) at this position, raising the possibil ity that this change may be tolerated. Other computational analyses (biochemical amino acid properties, AlignGVGD, PolyPhen2, and SIFT) do not provide strong su pport for or against an impact to the protein. Although the frequency of this va riant suggests that it may be more likely benign, additional studies are needed to fully assess its clinical significance.
GeneDx RCV001703899 SCV000237052 likely benign not provided 2020-03-10 criteria provided, single submitter clinical testing
Invitae RCV000468986 SCV000555118 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-10-30 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768894 SCV000900267 uncertain significance Cardiomyopathy 2017-03-01 criteria provided, single submitter clinical testing

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