ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.99814C>T (p.Leu33272Phe)

dbSNP: rs397517780
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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 RCV000040888 SCV000064579 uncertain significance not specified 2012-04-24 criteria provided, single submitter clinical testing The Leu30704Phe variant (TTN) has not been reported in the literature nor previo usly identified by our laboratory. Leucine (Leu) at position 30704 is highly con served in mammals and across evolutionarily distant species and the change to ph enylalanine (Phe) may not be tolerated. Other computational analyses (biochemica l amino acid properties, AlignGVGD, PolyPhen2, and SIFT) do not provide strong s upport for or against an impact to the protein. In summary, additional informati on is needed to fully assess the clinical significance of the Leu30704Phe varian t.
Fulgent Genetics, Fulgent Genetics RCV002490571 SCV002787035 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 2021-07-29 criteria provided, single submitter clinical testing

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