ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.156C>T (p.Pro52=)

gnomAD frequency: 0.00032  dbSNP: rs72647842
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Total submissions: 8
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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 RCV000152539 SCV000201741 likely benign not specified 2017-07-10 criteria provided, single submitter clinical testing p.Pro52Pro in exon 3 of TTN: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. This variant has been identified in 18/24036 of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.b roadinstitute.org; dbSNP rs72647842).
GeneDx RCV000152539 SCV000236716 benign not specified 2014-07-02 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.
Invitae RCV001085381 SCV000555258 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-26 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000152539 SCV000616003 benign not specified 2017-02-07 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726251 SCV000701317 uncertain significance not provided 2016-10-10 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769150 SCV000900524 likely benign Cardiomyopathy 2021-01-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000152539 SCV002571821 likely benign not specified 2022-08-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399534 SCV002708448 likely benign Cardiovascular phenotype 2019-09-27 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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