ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.93968C>T (p.Ala31323Val)

gnomAD frequency: 0.00004  dbSNP: rs200345129
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172193 SCV000054888 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040807 SCV000064498 uncertain significance not specified 2011-10-11 criteria provided, single submitter clinical testing The Ala28755Val variant has not been reported in the literature or previously id entified by our laboratory. Alanine (Ala) at position 28755 is conserved through frog, though fish carries a serine, raising the possibility that a change may b e tolerated. Computational tools are mixed with AlignGVGD predicting benign and SIFT predicting deleterious, though their accuracy is unknown. At this time, add itional data is required to assess the clinical significance of this variant.
Eurofins Ntd Llc (ga) RCV000172193 SCV000861005 uncertain significance not provided 2018-05-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000172193 SCV001152648 uncertain significance not provided 2024-01-01 criteria provided, single submitter clinical testing TTN: PM2, BP4
Ambry Genetics RCV002362650 SCV002663973 uncertain significance Cardiovascular phenotype 2019-12-05 criteria provided, single submitter clinical testing The p.A22258V variant (also known as c.66773C>T), located in coding exon 166 of the TTN gene, results from a C to T substitution at nucleotide position 66773. The alanine at codon 22258 is replaced by valine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002490570 SCV002792275 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 2021-11-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000172193 SCV003819703 uncertain significance not provided 2021-12-15 criteria provided, single submitter clinical testing

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