ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.32005C>T (p.Pro10669Ser)

dbSNP: rs945424720
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532737 SCV000642979 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-05-18 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV003403299 SCV004121148 uncertain significance TTN-related condition 2023-10-02 criteria provided, single submitter clinical testing The TTN c.32005C>T variant is predicted to result in the amino acid substitution p.Pro10669Ser. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. 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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