ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.105940G>A (p.Ala35314Thr)

gnomAD frequency: 0.00011  dbSNP: rs377171054
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000713957 SCV000237955 likely benign not provided 2019-08-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31983221)
Eurofins Ntd Llc (ga) RCV000713957 SCV000334168 uncertain significance not provided 2017-05-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000642996 SCV000764683 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-10-08 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 35314 of the TTN protein (p.Ala35314Thr). This variant is present in population databases (rs377171054, gnomAD 0.02%). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 31983221). ClinVar contains an entry for this variant (Variation ID: 203102). 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). 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.
Athena Diagnostics RCV000713957 SCV000844608 uncertain significance not provided 2017-09-06 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000713957 SCV003827366 uncertain significance not provided 2021-01-25 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486759 SCV004239808 likely benign Cardiomyopathy 2023-03-23 criteria provided, single submitter clinical testing

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