ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.59535del (p.Asn19846fs)

dbSNP: rs1559602980
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003770627 SCV004585424 likely pathogenic Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-11-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn19846Metfs*12) in the TTN gene. While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated TTN protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with dilated cardiomyopathy (PMID: 34011823). ClinVar contains an entry for this variant (Variation ID: 1012334). This variant is located in the A band of TTN (PMID: 25589632). Truncating variants in this region are significantly overrepresented in patients affected with dilated cardiomyopathy (PMID: 25589632). Truncating variants in this region have also been reported in individuals affected with autosomal recessive centronuclear myopathy (PMID: 23975875). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
KTest Genetics, KTest RCV001594447 SCV001500002 likely pathogenic Dilated cardiomyopathy 1G no assertion criteria provided clinical testing

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