ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.29857G>T (p.Gly9953Cys)

gnomAD frequency: 0.00001  dbSNP: rs770212603
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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 RCV002266153 SCV002547668 uncertain significance not specified 2022-05-19 criteria provided, single submitter clinical testing Variant summary: TTN c.26125G>T (p.Gly8709Cys) results in a non-conservative amino acid change located in the I-band region of the encoded protein sequence. Three of four in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8.1e-06 in 246270 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.26125G>T in individuals affected with Limb-Girdle Muscular Dystrophy, Type 2J/TTN-related cardiomyopathies and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Revvity Omics, Revvity RCV003138139 SCV003820275 uncertain significance not provided 2022-05-05 criteria provided, single submitter clinical testing
GeneDx RCV003138139 SCV003921736 uncertain significance not provided 2022-10-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004529111 SCV004111416 uncertain significance TTN-related disorder 2023-05-05 criteria provided, single submitter clinical testing The TTN c.29857G>T variant is predicted to result in the amino acid substitution p.Gly9953Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0086% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179569342-C-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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