ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.31255C>T (p.Pro10419Ser)

dbSNP: rs397517537
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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 RCV000040117 SCV000063808 uncertain significance not specified 2015-02-25 criteria provided, single submitter clinical testing The p.Pro9175Ser variant in TTN has been identified by our laboratory in 1 Cauca sian individual with HCM who carried a pathogenic variant in another gene. In ad dition, this variant was absent from large population studies. Proline (Pro) at position 9175 is not conserved in mammals or evolutionarily distant species, sug gesting that a change at this position may be tolerated. Additional computationa l prediction tools do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Pro9175Ser variant is u ncertain.
Fulgent Genetics, Fulgent Genetics RCV002490556 SCV002778411 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 2021-08-17 criteria provided, single submitter clinical testing

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