ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.96904G>A (p.Val32302Met) (rs1339368168)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548203 SCV000643968 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-03-04 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 32302 of the TTN protein (p.Val32302Met). There is a small physicochemical difference between valine and methionine. This variant also falls at the last nucleotide of exon 347 of the TTN coding sequence, which is part of the consensus splice site for this exon. Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a TTN-related disease. This variant identified in the TTN gene is located in the A band of the resulting protein (PMID: 25589632). It is unclear how this variant impacts the function of this protein. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant has uncertain impact on TTN function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV001256857 SCV001433347 uncertain significance Dilated cardiomyopathy 1A 2020-03-19 criteria provided, single submitter clinical testing

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