ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69508G>A (p.Glu23170Lys)

gnomAD frequency: 0.00001  dbSNP: rs1334543067
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000828097 SCV000969776 likely benign not provided 2018-06-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Revvity Omics, Revvity RCV000828097 SCV003822954 uncertain significance not provided 2020-07-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782573 SCV005394878 uncertain significance not specified 2024-09-30 criteria provided, single submitter clinical testing Variant summary: TTN c.61804G>A (p.Glu20602Lys) results in a conservative amino acid change located in the A-band domain of the encoded protein sequence. Two of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 248488 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.61804G>A has been reported in the literature in at least one individual affected with Arrhythmogenic cardiomyopathy (Chen_2018). The report does 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 have been ascertained in the context of this evaluation (PMID: 29750433). ClinVar contains an entry for this variant (Variation ID: 669100). Based on the evidence outlined above, the variant was classified as uncertain significance.

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