ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15496+1G>T

dbSNP: rs397517481
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330277 SCV001521912 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J 2019-11-04 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001376850 SCV001574036 likely pathogenic Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-12-25 criteria provided, single submitter clinical testing A different variant affecting this nucleotide has been reported in a patient affected with centronuclear myopathy (PMID: 23975875), indicating that this nucleotide may be crucial for normal RNA splicing. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TTN-related disease. In summary, this is a novel splice site change that occurs at the same position as a previously reported variant. This evidence indicates that the variant is pathogenic, but additional data is needed to prove that conclusively as truncating variants have been shown to be highly prevalent in the TTN gene in the general population and unaffected individuals (PMID: 26701604, 22335739). For these reasons, this variant has been classified as Likely Pathogenic. This sequence change affects a donor splice site in intron 52 of the TTN gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt RNA splicing.

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