ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.104971A>G (p.Thr34991Ala)

dbSNP: rs764200285
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Genomics Program, Sidra Medicine RCV001293058 SCV001434040 uncertain significance Hypertrophic cardiomyopathy criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001879970 SCV002189152 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-01-08 criteria provided, single submitter clinical testing This variant is located in the M band of TTN (PMID: 25589632). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are unavailable for the TTN gene. This variant has not been reported in the literature in individuals with TTN-related conditions. This variant is present in population databases (rs764200285, ExAC 0.001%). This sequence change replaces threonine with alanine at codon 34991 of the TTN protein (p.Thr34991Ala). There is a small physicochemical difference between threonine and alanine.
Breakthrough Genomics, Breakthrough Genomics RCV004692362 SCV005188096 uncertain significance not provided criteria provided, single submitter not provided

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