ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.95968G>A (p.Val31990Met)

dbSNP: rs727503541
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152176 SCV000200908 uncertain significance not specified 2014-08-11 criteria provided, single submitter clinical testing The Val29422Met variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction tool s and conservation analysis suggest that this variant may not impact the protein , though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the Val29422Met variant is uncertain.
Invitae RCV000549754 SCV000643951 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-06-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619899 SCV000735587 uncertain significance Cardiovascular phenotype 2019-08-30 criteria provided, single submitter clinical testing The p.V22925M variant (also known as c.68773G>A), located in coding exon 172 of the TTN gene, results from a G to A substitution at nucleotide position 68773. The valine at codon 22925 is replaced by methionine, an amino acid with highly 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769874 SCV000901300 uncertain significance Cardiomyopathy 2016-06-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478434 SCV002775579 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 2021-09-13 criteria provided, single submitter clinical testing

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