ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.48432T>C (p.Asp16144=)

gnomAD frequency: 0.00002  dbSNP: rs776643336
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Total submissions: 4
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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 RCV000220245 SCV000271029 likely benign not specified 2015-03-30 criteria provided, single submitter clinical testing p.Asp13576Asp in exon 207 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has also been identified in 3/66724 Eur opean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadin stitute.org).
Invitae RCV000919540 SCV001064887 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-09-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003430773 SCV004152409 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing TTN: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003937845 SCV004749129 likely benign TTN-related condition 2019-05-24 criteria provided, single submitter 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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