ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88059C>A (p.Ser29353Arg)

gnomAD frequency: 0.00001  dbSNP: rs1311421658
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598351 SCV000701154 uncertain significance not provided 2017-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000598351 SCV001986939 uncertain significance not provided 2023-03-08 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003488711 SCV004241737 uncertain significance not specified 2023-12-27 criteria provided, single submitter clinical testing Variant summary: TTN c.80355C>A (p.Ser26785Arg) results in a non-conservative amino acid change located in the A-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 9.3e-06 in 1606588 control chromosomes in the gnomAD database (v4.0 dataset). To our knowledge, no occurrence of c.80355C>A in individuals affected with Limb-Girdle Muscular Dystrophy, Type 2J and no experimental evidence demonstrating its impact on protein function have been reported. Two submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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