ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.105662C>A (p.Ala35221Asp)

dbSNP: rs1558992011
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000704519 SCV000833471 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-04-05 criteria provided, single submitter clinical testing This sequence change replaces alanine with aspartic acid at codon 35221 of the TTN protein (p.Ala35221Asp). There is a moderate physicochemical difference between alanine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TTN-related disease. 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. This variant identified in the TTN gene is located in the M band of the resulting protein (PMID: 25589632). It is unclear how this variant impacts the function of this protein. Variants in this region of the TTN gene have not been reported to cause cardiomyopathy, but may be relevant for neuromuscular disorders (PMID: 23975875). Algorithms developed to predict the effect of missense changes on protein structure and function are unavailable for the TTN gene.

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