ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.33656C>T (p.Pro11219Leu)

dbSNP: rs757268986
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465838 SCV000542638 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-04-22 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170395 SCV001332972 uncertain significance Cardiomyopathy 2017-11-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001420759 SCV001623106 uncertain significance not specified 2021-04-26 criteria provided, single submitter clinical testing Variant summary: TTN c.29924C>T (p.Pro9975Leu) results in a non-conservative amino acid change located in the I-band of the encoded protein sequence. Three of four in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 245774 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.29924C>T in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Both laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Athena Diagnostics Inc RCV001662419 SCV001880246 uncertain significance not provided 2021-04-28 criteria provided, single submitter clinical testing

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