ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102433G>A (p.Ala34145Thr)

gnomAD frequency: 0.00002  dbSNP: rs542891030
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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 RCV001344050 SCV001538079 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2020-04-08 criteria provided, single submitter clinical testing 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 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). This variant has not been reported in the literature in individuals with TTN-related conditions. This variant is present in population databases (rs542891030, ExAC 0.02%). This sequence change replaces alanine with threonine at codon 34145 of the TTN protein (p.Ala34145Thr). There is a small physicochemical difference between alanine and threonine.
Mayo Clinic Laboratories, Mayo Clinic RCV003481083 SCV004225019 uncertain significance not provided 2023-06-23 criteria provided, single submitter clinical testing BP4

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