ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9650A>C (p.Glu3217Ala)

gnomAD frequency: 0.00004  dbSNP: rs1014216424
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001799272 SCV002043106 uncertain significance Cardiomyopathy 2020-02-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002370323 SCV002688254 uncertain significance Cardiovascular phenotype 2020-09-25 criteria provided, single submitter clinical testing The p.E3171A variant (also known as c.9512A>C), located in coding exon 39 of the TTN gene, results from an A to C substitution at nucleotide position 9512. The glutamic acid at codon 3171 is replaced by alanine, an amino acid with dissimilar 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 RCV002478031 SCV002783623 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 2022-02-08 criteria provided, single submitter clinical testing

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