ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102956_102958del (p.Thr34319del)

dbSNP: rs878854378
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000787944 SCV000926965 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-12-05 criteria provided, single submitter clinical testing A heterozygous c.55018C>T (p.R18340X) pathogenic variant in the TTN gene was detected in this individual. A heterozygous c.95252_95254delCAA (p.T31751del) likely pathogenic variant in the TTN gene was also detected. A heterozygous c.74698A>C (p.K24900Q) variant was also detected and found to be likely benign. The c.55018C>T (p.R18340X) variant is in trans configuration with the c.95252_95254delCAA (p.T31751del) and c.74698A>C (p.K24900Q) variants.
Labcorp Genetics (formerly Invitae), Labcorp RCV001366600 SCV001562908 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-06 criteria provided, single submitter clinical testing This variant, c.102956_102958del, results in the deletion of 1 amino acid(s) of the TTN protein (p.Thr34319del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 27854218). ClinVar contains an entry for this variant (Variation ID: 242429). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant is located in the M band of TTN (PMID: 25589632). Non-truncating variants in this region may be relevant for neuromuscular disorders, but have not been definitively shown to cause cardiomyopathy (PMID: 23975875). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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