ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.16550C>T (p.Ser5517Leu)

gnomAD frequency: 0.00005  dbSNP: rs769165258
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464192 SCV000542423 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-05-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001527012 SCV001737825 uncertain significance not specified 2021-05-24 criteria provided, single submitter clinical testing Variant summary: TTN c.12818C>T (p.Ser4273Leu) results in a non-conservative amino acid change located in the I-band domain of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 5.2e-05 in 248350 control chromosomes (gnomAD). This frequency is not significantly higher than expected for a pathogenic variant in TTN causing Dilated Cardiomyopathy (5.2e-05 vs 0.00039), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.12818C>T in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
GeneDx RCV001561236 SCV001783794 likely benign not provided 2020-01-23 criteria provided, single submitter clinical testing

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