ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.96069dup (p.Val32024fs)

dbSNP: rs878854432
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232804 SCV000286938 likely pathogenic Dilated cardiomyopathy 1G 2016-01-01 criteria provided, single submitter clinical testing This sequence change duplicates 1 nucleotide in exon 346 of the TTN mRNA (c.96069dupT), causing a frameshift at codon 32024. This creates a premature translational stop signal (p.Val32024Cysfs*31) and is expected to result in an absent or disrupted 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). For these reasons, this variant has been classified as Likely Pathogenic.
Invitae RCV001379540 SCV001577358 likely pathogenic Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-01-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Likely Pathogenic. 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 sequence change duplicates 1 nucleotide in exon 346 of the TTN mRNA (c.96069dupT), causing a frameshift at codon 32024. This creates a premature translational stop signal (p.Val32024Cysfs*31) and is expected to result in an absent or disrupted protein product.

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