ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.85420C>T (p.Arg28474Cys)

gnomAD frequency: 0.00002  dbSNP: rs757771061
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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 RCV000474761 SCV000542762 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-12-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533148 SCV004116819 uncertain significance TTN-related disorder 2023-02-22 criteria provided, single submitter clinical testing The TTN c.85420C>T variant is predicted to result in the amino acid substitution p.Arg28474Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0057% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179425439-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
CeGaT Center for Human Genetics Tuebingen RCV003437204 SCV004150248 uncertain significance not provided 2022-10-01 criteria provided, single submitter clinical testing TTN: PM2, BP4

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