ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.34038T>G (p.Pro11346=)

gnomAD frequency: 0.00001  dbSNP: rs375714279
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040167 SCV000063858 likely benign not specified 2012-06-01 criteria provided, single submitter clinical testing Pro10102Pro in exon 143 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 1/6550 European Am erican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Pro10102Pro in exon 143 of TTN (allele fre quency = 1/6550) **
Labcorp Genetics (formerly Invitae), Labcorp RCV000540434 SCV000643014 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-30 criteria provided, single submitter clinical testing

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