ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.42687C>T (p.Ala14229=)

gnomAD frequency: 0.00002  dbSNP: rs775889693
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000417924 SCV000515879 benign not specified 2016-03-07 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001085096 SCV000764907 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-12-20 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727964 SCV000855480 uncertain significance not provided 2018-08-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000727964 SCV001152923 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402134 SCV002709402 likely benign Cardiovascular phenotype 2021-01-07 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.
PreventionGenetics, part of Exact Sciences RCV004530560 SCV004733074 likely benign TTN-related disorder 2020-07-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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