ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.97892A>T (p.Lys32631Ile)

gnomAD frequency: 0.00001  dbSNP: rs944963846
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531539 SCV000643981 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367875 SCV002662456 uncertain significance Cardiovascular phenotype 2019-09-04 criteria provided, single submitter clinical testing The p.K23566I variant (also known as c.70697A>T), located in coding exon 178 of the TTN gene, results from an A to T substitution at nucleotide position 70697. The lysine at codon 23566 is replaced by isoleucine, an amino acid with dissimilar properties. This amino acid position is well 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 RCV002491056 SCV002794410 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 2021-09-10 criteria provided, single submitter clinical testing

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