ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.68251A>C (p.Asn22751His)

dbSNP: rs727504970
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Total submissions: 1
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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 RCV000156382 SCV000206100 uncertain significance not specified 2014-03-24 criteria provided, single submitter clinical testing The Asn20183His variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction tool s and conservation analysis suggest that this variant may not impact the protein , though this information is not predictive enough to rule out pathogenicity. Ad ditional information is needed to fully assess the clinical significance of this variant.

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