ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.17C>T (p.Pro6Leu)

gnomAD frequency: 0.00001  dbSNP: rs201490999
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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 RCV000152540 SCV000201743 uncertain significance not specified 2014-08-21 criteria provided, single submitter clinical testing The Pro6Leu variant in TTN gene has not been previously reported in individuals with cardiomyopathy or in large population studies. This variant is listed in db SNP (rs201490999) without frequency information. Computational prediction tools and conservation analysis suggest that this variant may impact the protein, thou gh this information is not predictive enough to determine pathogenicity. In summ ary, the clinical significance of the Pro6Leu variant is uncertain.
Fulgent Genetics, Fulgent Genetics RCV000765597 SCV000896912 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 2021-09-20 criteria provided, single submitter clinical testing

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