ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.13700A>G (p.Asp4567Gly)

gnomAD frequency: 0.00007  dbSNP: rs745641339
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697884 SCV000722670 uncertain significance not provided 2024-05-29 criteria provided, single submitter clinical testing Not observed at a 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
Ambry Genetics RCV002438581 SCV002677913 uncertain significance Cardiovascular phenotype 2020-07-21 criteria provided, single submitter clinical testing The p.D4204G variant (also known as c.12611A>G), located in coding exon 44 of the TTN gene, results from an A to G substitution at nucleotide position 12611. The aspartic acid at codon 4204 is replaced by glycine, an amino acid with similar properties. This amino acid position is poorly 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 RCV002491266 SCV002777670 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 2021-09-23 criteria provided, single submitter clinical testing

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