ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.21980C>T (p.Thr7327Met)

gnomAD frequency: 0.00002  dbSNP: rs727504975
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Total submissions: 3
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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 RCV000156388 SCV000206106 likely benign not specified 2014-03-21 criteria provided, single submitter clinical testing Thr6083Met in exon 73 of TTN: This variant is not expected to have clinical sign ificance due to a lack of conservation across species, including mammals. Of not e, 6 mammals (squirrel monkey, bushbaby, alpaca, walrus, flying fox, and armadil lo) have a methionine (Met) at this position despite high nearby amino acid cons ervation. Thr6083Met in exon 73 of TTN (allele frequency = n/a)
Labcorp Genetics (formerly Invitae), Labcorp RCV000540375 SCV000642811 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-11-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884368 SCV004700820 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing TTN: BP4

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