ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.48160+1G>A

dbSNP: rs779498825
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV001290265 SCV001477294 likely pathogenic Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9 2021-01-20 criteria provided, single submitter clinical testing The c.21541+1G>A variant is not present in publicly available population databases like 1000 Genomes, EVS, ExAC, gnomAD and dbSNP. The variant is not present in our in-house exome database. The variant was notearlier reported to ClinVar, HGMD or OMIM databases. In-silico pathogenicity prediction programs like HSF3.1, MutationTaster2, CADD etc. predicted this variant to be likely deleterious. However no functional studies are available. Due to lack of enough evidence the variant has been classified as Likely Pathogenic.
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV001527386 SCV001738378 likely pathogenic Dilated cardiomyopathy 1G; Myopathy, myofibrillar, 9, with early respiratory failure; Hypertrophic cardiomyopathy 9 2021-01-20 criteria provided, single submitter clinical testing The c.21541+1G>A variant is not present in publicly available population databases like 1000 Genomes, EVS, ExAC, gnomAD and dbSNP. The variant is not present in our in-house exome database. The variant was not earlier reported to ClinVar, HGMD or OMIM databases. In-silico pathogenicity prediction programs like Human Splice Finder version 3.1 (HSF3.1), MutationTaster2, CADD etc. predicted this variant to be likely deleterious.However there are no reported or established functional studies present to prove it's pathogenicity. Due to lack of enough evidence the variant has been classified as Likely Pathogenic.

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