ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.57826C>T (p.Leu19276Phe)

gnomAD frequency: 0.00003  dbSNP: rs756493505
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003226879 SCV003923275 uncertain significance not specified 2023-03-01 criteria provided, single submitter clinical testing Variant summary: TTN c.50122C>T (p.Leu16708Phe) results in a non-conservative amino acid change located in the A-band of the encoded protein sequence. Two of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.8e-05 in 170798 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.50122C>T in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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