ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.105601G>A (p.Val35201Met)

gnomAD frequency: 0.00001  dbSNP: rs397517797
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Total submissions: 3
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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 RCV000040965 SCV000064656 uncertain significance not specified 2012-08-21 criteria provided, single submitter clinical testing The Val32633Met variant in TTN has not been previously identified in our laborat ory or in the literature. Computational analyses (biochemical amino acid propert ies, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to fu lly assess the clinical significance of the Val32633Met variant.
Invitae RCV001364205 SCV001560340 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-06 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 35201 of the TTN protein (p.Val35201Met). This variant is present in population databases (rs397517797, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with TTN-related conditions. ClinVar contains an entry for this variant (Variation ID: 47696). 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). Non-truncating 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.
Revvity Omics, Revvity RCV003137575 SCV003824831 uncertain significance not provided 2019-03-04 criteria provided, single submitter clinical testing

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