ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.68498C>T (p.Ser22833Leu)

dbSNP: rs876658077
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Total submissions: 2
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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 RCV004017523 SCV000272734 uncertain significance not provided 2023-02-06 criteria provided, single submitter clinical testing The p.Ser20265Leu variant in TTN was identified in 1 individual with dilated cardiomyopathy (DCM; LMM data) and was also been reported by other clinical laboratories in ClinVar (Variation ID 229498). It was absent from large population studies. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting.
Fulgent Genetics, Fulgent Genetics RCV002485405 SCV002777427 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 2021-12-27 criteria provided, single submitter clinical testing

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