ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.37502C>T (p.Pro12501Leu)

dbSNP: rs1236045684
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549749 SCV000643072 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-05-16 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000714021 SCV000844684 uncertain significance not provided 2018-04-18 criteria provided, single submitter clinical testing
Genetics and Genomics Program, Sidra Medicine RCV001293184 SCV001434182 likely benign Primary dilated cardiomyopathy criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV004537984 SCV004120426 uncertain significance TTN-related disorder 2023-10-09 criteria provided, single submitter clinical testing The TTN c.37502C>T variant is predicted to result in the amino acid substitution p.Pro12501Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.035% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179523473-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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