ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.94282C>A (p.Arg31428Ser)

dbSNP: rs190282707
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727765 SCV000237788 likely benign not provided 2021-01-22 criteria provided, single submitter clinical testing
Invitae RCV000695149 SCV000823631 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2019-05-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 31428 of the TTN protein (p.Arg31428Ser). There is a moderate physicochemical difference between arginine and serine. This variant is present in population databases (rs190282707, ExAC 0.006%). This variant has not been reported in the literature in individuals with TTN-related disease. ClinVar contains an entry for this variant (Variation ID: 203002). This variant identified in the TTN gene is located in the A band of the resulting protein (PMID: 25589632). Algorithms developed to predict the effect of missense changes on protein structure and function are unavailable for the TTN gene. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a novel missense change with unknown impact on protein function. Missense variants in this region of the TTN gene are typically not causative for cardiac disease, but may be relevant for neuromuscular disorders. However, the available evidence is currently insufficient to determine this variant’s role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Eurofins Ntd Llc (ga) RCV000727765 SCV000855150 uncertain significance not provided 2018-06-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765540 SCV000896855 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2018-10-31 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196687 SCV001367318 uncertain significance Tibial muscular dystrophy 2020-01-27 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3,BP1.
Revvity Omics, Revvity RCV000727765 SCV003818411 uncertain significance not provided 2023-11-30 criteria provided, single submitter clinical testing

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