ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.103924_103926del (p.Pro34642del)

dbSNP: rs771366227
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000325914 SCV000420127 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000363355 SCV000420128 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000266422 SCV000420129 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000323739 SCV000420130 uncertain significance Early-onset myopathy with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000376093 SCV000420131 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000284078 SCV000420132 uncertain significance Tibial muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000517109 SCV000615969 uncertain significance not specified 2017-02-09 criteria provided, single submitter clinical testing
AiLife Diagnostics, AiLife Diagnostics RCV002223203 SCV002501117 uncertain significance not provided 2022-01-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002223203 SCV003824864 uncertain significance not provided 2019-03-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021784 SCV005020731 uncertain significance Cardiovascular phenotype 2023-11-13 criteria provided, single submitter clinical testing The c.76729_76731delCCT variant (also known as p.P25577del) is located in coding exon 185 of the TTN gene. This variant results from an in-frame CCT deletion at nucleotide positions 76729 to 76731. This results in the in-frame deletion of a proline at codon 25577. This alteration, noted as NM_001267550.1: p.P34642del, has been reported in a dilated cardiomyopathy (DCM) cohort (Mazzarotto F et al. Circulation, 2020 Feb;141:387-398). This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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