ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.4945G>A (p.Val1649Ile)

gnomAD frequency: 0.00005  dbSNP: rs138931943
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591964 SCV000701770 uncertain significance not provided 2016-09-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341514 SCV002639595 uncertain significance Cardiovascular phenotype 2019-04-19 criteria provided, single submitter clinical testing The p.V1603I variant (also known as c.4807G>A), located in coding exon 26 of the TTN gene, results from a G to A substitution at nucleotide position 4807. The valine at codon 1603 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be benign and unknown by PolyPhen and SIFT in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002483576 SCV002781953 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 2021-07-13 criteria provided, single submitter clinical testing

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