ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2264C>T (p.Ser755Leu)

dbSNP: rs533384820
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Total submissions: 9
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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 RCV000152520 SCV000201707 benign not specified 2021-01-26 criteria provided, single submitter clinical testing The p.Ser755Leu variant in TTN is classified as benign because it has been identified in 0.26% (79/30614) of South Asian chromosomes, including 1 homozygote, by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1.
GeneDx RCV001697080 SCV000722738 likely benign not provided 2021-06-02 criteria provided, single submitter clinical testing
Invitae RCV000869244 SCV001010657 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-06 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798488 SCV002042404 benign Cardiomyopathy 2019-12-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840120 SCV002101589 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840121 SCV002101591 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840122 SCV002101592 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840119 SCV002101593 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415644 SCV002726094 likely benign Cardiovascular phenotype 2020-03-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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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