ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.95357A>G (p.Asn31786Ser)

dbSNP: rs1696865626
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812348 SCV001471554 uncertain significance not provided 2019-08-02 criteria provided, single submitter clinical testing The TTN c.95357A>G; p.Asn31786Ser variant is rare in the general population (<1% allele frequency in the Genome Aggregation Database) and has not been reported in the medical literature in association with dilated cardiomyopathy (DCM) or other TTN-related disease. The clinical relevance of rare missense variants in this gene, which are identified on average once per individual sequenced in affected populations (Herman 2012), is not well understood. Yet, evidence suggests that the vast majority of such missense variants do not contribute to the clinical outcome of DCM (Begay 2015). Thus, the clinical significance of the p.Asn31786Ser variant cannot be determined with certainty.
Labcorp Genetics (formerly Invitae), Labcorp RCV001323096 SCV001513998 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2020-03-22 criteria provided, single submitter clinical testing 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 A band of TTN (PMID: 25589632). Variants in this region may be relevant for cardiac or neuromuscular disorders (PMID: 25589632, 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. This variant has not been reported in the literature in individuals with TTN-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with serine at codon 31786 of the TTN protein (p.Asn31786Ser). There is a small physicochemical difference between asparagine and serine.

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