ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.86411C>T (p.Thr28804Ile)

dbSNP: rs750815763
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV004528536 SCV002034822 uncertain significance TTN-related disorder 2021-10-01 criteria provided, single submitter clinical testing The TTN c.86411C>T (p.Thr28804Ile) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in version 2.1.1 or version 3.1.1 of the Genome Aggregation Database despite its location in a region of good sequencing coverage, which suggests the variant is rare. This variant is located within the A band of the protein (Oates et al. 2018). Based on the limited evidence, the p.Thr28804Ile variant is classified as a variant of uncertain significance for TTN-related disorders.

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