ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.57008C>A (p.Ser19003Ter)

dbSNP: rs878854318
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226895 SCV000286733 likely pathogenic Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2019-10-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Likely Pathogenic. This sequence change creates a premature translational stop signal at codon 19003 (p.Ser19003*). It is expected to result in a truncated protein product. This variant is found in the A-band of this gene. While this particular variant has not been reported in the literature, truncating variants in the A-band of TTN are likely pathogenic (PMID: 25589632). This variant is not present in population databases (ExAC no frequency). ClinVar contains an entry for this variant (Variation ID: 238805).

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