ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.91271-1G>A

dbSNP: rs1057522831
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441617 SCV000529681 likely pathogenic not provided 2025-01-16 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); Reported as an ACMG secondary finding in published literature (PMID: 34621001); This variant is associated with the following publications: (PMID: 34621001, 35534676)

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