ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.79333C>T (p.Arg26445Cys)

dbSNP: rs780658084
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643142 SCV000764829 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-01-02 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV003403481 SCV004119186 uncertain significance TTN-related condition 2023-06-27 criteria provided, single submitter clinical testing The TTN c.79333C>T variant is predicted to result in the amino acid substitution p.Arg26445Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0033% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179431526-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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