ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.75127G>T (p.Val25043Phe)

gnomAD frequency: 0.00003  dbSNP: rs559907766
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Total submissions: 4
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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 RCV000214331 SCV000272757 uncertain significance not specified 2015-06-11 criteria provided, single submitter clinical testing The p.Val22475Phe variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 0.1% (13/16460) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs559907766). Computational prediction tools and conservation analy sis do not provide strong support for or against an impact to the protein. In su mmary, the clinical significance of the p.Val22475Phe variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV000528371 SCV000643663 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002327092 SCV002634380 uncertain significance Cardiovascular phenotype 2019-08-06 criteria provided, single submitter clinical testing The p.V15978F variant (also known as c.47932G>T), located in coding exon 153 of the TTN gene, results from a G to T substitution at nucleotide position 47932. The valine at codon 15978 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003137815 SCV003827898 uncertain significance not provided 2023-10-27 criteria provided, single submitter clinical testing

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