ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.3972G>C (p.Trp1324Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV003152938 SCV003841506 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Protein truncation variants are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.93; 3Cnet: 0.56). Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.
GeneDx RCV004779494 SCV005388750 uncertain significance not provided 2024-04-18 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; This variant is associated with the following publications: (PMID: 23975875)

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