ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.6923C>A (p.Ser2308Tyr)

gnomAD frequency: 0.00002  dbSNP: rs577966527
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001585395 SCV001819290 uncertain significance not provided 2020-12-29 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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 RCV002368614 SCV002661787 uncertain significance Cardiovascular phenotype 2018-07-30 criteria provided, single submitter clinical testing The p.S2262Y variant (also known as c.6785C>A), located in coding exon 28 of the TTN gene, results from a C to A substitution at nucleotide position 6785. The serine at codon 2262 is replaced by tyrosine, an amino acid with dissimilar properties. This amino acid position is well 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.
Fulgent Genetics, Fulgent Genetics RCV002476897 SCV002782832 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 2021-10-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001585395 SCV003827385 uncertain significance not provided 2020-07-09 criteria provided, single submitter clinical testing

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