ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.30725C>T (p.Ala10242Val)

gnomAD frequency: 0.00001  dbSNP: rs397517534
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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 RCV000040112 SCV000063803 uncertain significance not specified 2012-07-18 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ala8998Val vari ant in TTN has not been reported in the literature nor previously identified by our laboratory. Computational analyses (biochemical amino acid properties, conse rvation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Ala8998Val variant may not impact the protein, though this information is not predictive enough to rul e out pathogenicity. Although this data supports that the Ala8998Val variant may be benign, additional studies are needed to fully assess its clinical significa nce.

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