ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.105718C>T (p.Arg35240Trp)

gnomAD frequency: 0.00001  dbSNP: rs752729073
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000643922 SCV000765609 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001449778 SCV001653053 uncertain significance not specified 2020-06-15 criteria provided, single submitter clinical testing The p.Arg32672Trp variant in TTN has not been previously reported in individuals with cardiomyopathy but has been identified in 3/248812 of pan-ethnic chromosomes by gnomAD (http://gnomad.broadinstitute.org). This variant has also been reported by other clinical laboratories in ClinVar (Variation ID 535752). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2.
Revvity Omics, Revvity RCV003140031 SCV003827255 uncertain significance not provided 2020-10-15 criteria provided, single submitter clinical testing

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