ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.25853G>A (p.Gly8618Glu)

gnomAD frequency: 0.00006  dbSNP: rs369947439
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323436 SCV004029902 uncertain significance not specified 2024-09-05 criteria provided, single submitter clinical testing Variant summary: TTN c.22121G>A (p.Gly7374Glu) results in a non-conservative amino acid change located in the I-band of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4.4e-05 in 248596 control chromosomes, predominantly at a frequency of 0.0002 within the Latino subpopulation in the gnomAD database. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.22121G>A has been reported in the literature in an individual affected with sudden cardiac death without evidence of causality (Campuzano_2018). These report(s) do not provide unequivocal conclusions about association of the variant with Dilated Cardiomyopathy. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 30086531, 30377383). ClinVar contains an entry for this variant (Variation ID: 203340). Based on the evidence outlined above, the variant was classified as uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000461658 SCV000543127 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-08-30 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725269 SCV000335511 uncertain significance not provided 2015-09-22 criteria provided, single submitter clinical testing
GeneDx RCV000725269 SCV000238367 likely benign not provided 2021-06-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30086531)

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