ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.56581G>A (p.Ala18861Thr)

gnomAD frequency: 0.00004  dbSNP: rs368419410
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000226834 SCV000286727 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2015-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433964 SCV002748607 uncertain significance Cardiovascular phenotype 2019-12-12 criteria provided, single submitter clinical testing The p.A9796T variant (also known as c.29386G>A), located in coding exon 117 of the TTN gene, results from a G to A substitution at nucleotide position 29386. The alanine at codon 9796 is replaced by threonine, an amino acid with 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.
Fulgent Genetics, Fulgent Genetics RCV002478850 SCV002787881 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 2021-08-11 criteria provided, single submitter clinical testing

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