ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.96883G>A (p.Val32295Met)

gnomAD frequency: 0.00007  dbSNP: rs199532781
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727094 SCV000705607 uncertain significance not provided 2017-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000727094 SCV000730895 likely benign not provided 2020-10-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31983221)
Revvity Omics, Revvity RCV000727094 SCV003824215 uncertain significance not provided 2023-08-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003488718 SCV004241414 uncertain significance not specified 2025-04-18 criteria provided, single submitter clinical testing Variant summary: TTN c.89179G>A (p.Val29727Met) results in a conservative amino acid change located in the A-band domain of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 6.6e-05 in 243132 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in TTN causing Limb-Girdle Muscular Dystrophy, Type 2J, allowing no conclusion about variant significance. c.89179G>A has been reported in the literature in at least one individual affected with Dilated cardiomyopathy (e.g. Mazzarotto_2020). These report(s) do not provide unequivocal conclusions about association of the variant with Limb-Girdle Muscular Dystrophy, Type 2J. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 31983221). ClinVar contains an entry for this variant (Variation ID: 499885). Based on the evidence outlined above, the variant was classified as uncertain significance.
CeGaT Center for Human Genetics Tuebingen RCV000727094 SCV005909466 uncertain significance not provided 2025-02-01 criteria provided, single submitter clinical testing TTN: PM2

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