ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.24962T>C (p.Leu8321Ser)

dbSNP: rs1577952583
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000816679 SCV000957197 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-12-07 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 659649). 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. This variant is located in the I band of TTN (PMID: 25589632). Variants in this region may be clinically relevant, but have not been definitively shown to cause cardiomyopathy or neuromuscular disease (PMID: 27493940, 32778822). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This missense change has been observed in individual(s) with clinical features of centronuclear myopathy (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 8321 of the TTN protein (p.Leu8321Ser).
AiLife Diagnostics, AiLife Diagnostics RCV002223952 SCV002503053 uncertain significance not provided 2021-11-30 criteria provided, single submitter clinical testing

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