ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.93262T>G (p.Phe31088Val)

gnomAD frequency: 0.00001  dbSNP: rs1023137329
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526690 SCV000643909 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367868 SCV002663440 uncertain significance Cardiovascular phenotype 2020-06-10 criteria provided, single submitter clinical testing The p.F22023V variant (also known as c.66067T>G), located in coding exon 166 of the TTN gene, results from a T to G substitution at nucleotide position 66067. The phenylalanine at codon 22023 is replaced by valine, an amino acid with highly similar 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 RCV002491055 SCV002797093 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 2021-07-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001700147 SCV003823646 uncertain significance not provided 2020-03-18 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700147 SCV001925079 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700147 SCV001971947 uncertain significance not provided no assertion criteria provided clinical testing

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