ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.43800A>C (p.Lys14600Asn)

dbSNP: rs769967388
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680137 SCV000807581 uncertain significance 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 2017-09-01 criteria provided, single submitter clinical testing This variant was found once in our laboratory in trans with a nonsense variant in a 14-year-old female with global delays, epilepsy, scoliosis, clubbed digits, constipation (who also carried a de novo pathogenic variant in KCNT1).

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