ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.13282G>A (p.Glu4428Lys)

gnomAD frequency: 0.00002  dbSNP: rs528766978
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152415 SCV000201445 likely benign not specified 2014-06-19 criteria provided, single submitter clinical testing Glu4190Lys in exon 45B of TTN: This variant is not expected to have clinical sig nificance due to a lack of conservation across species, including mammals. Of no te, >40 mammals including several primates (orangutan, gibbon, marmoset, squirre l monkey, and bushbaby) have a lysine (Lys) at this position despite high nearby amino acid conservation.
Invitae RCV000465956 SCV000542555 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-08-15 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770107 SCV000901533 likely benign Cardiomyopathy 2022-06-28 criteria provided, single submitter clinical testing
GeneDx RCV001538746 SCV001756437 likely benign not provided 2019-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002362801 SCV002658501 likely benign Cardiovascular phenotype 2020-01-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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