ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.43656G>A (p.Ser14552=)

gnomAD frequency: 0.00002  dbSNP: rs376851369
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769017 SCV000900390 likely benign Cardiomyopathy 2017-09-27 criteria provided, single submitter clinical testing
Invitae RCV002061040 SCV002347910 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-11-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388387 SCV002704020 likely benign Cardiovascular phenotype 2019-05-29 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.
Fulgent Genetics, Fulgent Genetics RCV002493400 SCV002794850 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-08-11 criteria provided, single submitter clinical testing

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