ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.106736C>T (p.Ser35579Leu)

gnomAD frequency: 0.00002  dbSNP: rs727504462
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155587 SCV000205295 uncertain significance not specified 2013-03-26 criteria provided, single submitter clinical testing The Ser33011Leu variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant has also not been identified in large and broad European American and African American populations by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS), though it may be c ommon in other populations. Computational analyses (biochemical amino acid prope rties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong suppo rt for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of this variant.
Invitae RCV001235588 SCV001408279 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-03-23 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. 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). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 178815). This variant has not been reported in the literature in individuals affected with TTN-related conditions. This variant is present in population databases (rs727504462, gnomAD 0.01%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 35579 of the TTN protein (p.Ser35579Leu).

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