ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.68329+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004729384 SCV005334454 likely pathogenic not provided 2023-12-06 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in an in-frame loss of the adjacent exon in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Observed with a frameshift variant in a patient with childhood-onset proximal weakness and cardiomypathy, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (PMID: 31561939); This variant is associated with the following publications: (PMID: 22335739, 31561939)

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