ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.76952T>C (p.Val25651Ala)

gnomAD frequency: 0.00001  dbSNP: rs370768049
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003482240 SCV000237563 uncertain significance not provided 2024-05-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000458395 SCV000543055 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-04-12 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001171263 SCV001333972 uncertain significance Cardiomyopathy 2017-11-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV003482240 SCV004229401 uncertain significance not provided 2022-09-27 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools disagree on the variant's effect on normal protein function.

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