ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.71348G>A (p.Arg23783His)

gnomAD frequency: 0.00001  dbSNP: rs145504744
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000311751 SCV000341147 uncertain significance not provided 2016-05-18 criteria provided, single submitter clinical testing
Genetics and Genomics Program, Sidra Medicine RCV001293169 SCV001434166 uncertain significance Primary dilated cardiomyopathy criteria provided, single submitter research
Revvity Omics, Revvity RCV000311751 SCV003820138 uncertain significance not provided 2021-04-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003993917 SCV004813373 uncertain significance not specified 2024-02-28 criteria provided, single submitter clinical testing Variant summary: TTN c.63644G>A (p.Arg21215His) 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 4.5e-05 in 246464 control chromosomes. c.63644G>A has been reported in the literature in unspecified individuals affected with Dilated cardiomyopathy, without strong evidence for causality (example, Al-Shafai_2021). These report(s) do not provide unequivocal conclusions about association of the variant with Limb-Girdle Muscular Dystrophy, Type 2J and other TTN-related diseases. 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: 34137518). ClinVar contains an entry for this variant (Variation ID: 287388). Based on the evidence outlined above, the variant was classified as uncertain significance.

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