ClinVar Miner

Submissions for variant NM_001267550.1(TTN):c.32471-1G>A (rs371725574)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000174435 SCV000225736 uncertain significance not provided 2017-04-19 criteria provided, single submitter clinical testing
Invitae RCV001060586 SCV001225286 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-08-08 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 129 of the TTN gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs371725574, ExAC 0.02%). This variant has been observed with a second variant in TTN in an individual with suspected titinopathy (PMID: 27854218). ClinVar contains an entry for this variant (Variation ID: 194146). This variant is located in the I band of TTN (PMID: 25589632). Truncating variants in this region have been shown to be highly prevalent in the general population and unaffected individuals (PMID: 26701604, 22335739). However, truncating variants in this region have also been reported in individuals affected with autosomal recessive centronuclear myopathy (PMID: 23975875). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000723286 SCV000854675 likely pathogenic Tibial muscular dystrophy 2018-05-08 no assertion criteria provided clinical testing

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