ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.17279C>T (p.Thr5760Met)

gnomAD frequency: 0.00001  dbSNP: rs770310501
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000474079 SCV000542576 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-24 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770090 SCV000901516 uncertain significance Cardiomyopathy 2017-08-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001375620 SCV001572541 uncertain significance not specified 2021-04-15 criteria provided, single submitter clinical testing Variant summary: TTN c.13547C>T (p.Thr4516Met) results in a non-conservative amino acid change located in the I-band domain of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.6e-05 in 248302 control chromosomes (gnomAD). 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.13547C>T in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Two ClinVar submitters (evaluation after 2014) cite the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Revvity Omics, Revvity RCV003139614 SCV003818388 uncertain significance not provided 2023-12-28 criteria provided, single submitter clinical testing

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