ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.13210A>G (p.Arg4404Gly)

gnomAD frequency: 0.00001  dbSNP: rs397517807
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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 RCV000041019 SCV000064710 uncertain significance not specified 2012-01-03 criteria provided, single submitter clinical testing The Arg4404Gly variant (TTN) has not been previously reported nor previously ide ntified by our laboratory. Conservation information is unavailable for this vari ant. Computational predictions on the impact to the protein are mixed (PolyPhen2 = benign, SIFT = pathogenic), though the accuracy of these tools is unknown. Ad ditional information is needed to fully assess the clinical significance of the Arg4404Gly variant.

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