ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.61121C>T (p.Pro20374Leu)

gnomAD frequency: 0.00001  dbSNP: rs372969669
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000839695 SCV000981598 likely benign not provided 2018-03-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences RCV004735825 SCV005352964 uncertain significance TTN-related disorder 2024-06-22 no assertion criteria provided clinical testing The TTN c.61121C>T variant is predicted to result in the amino acid substitution p.Pro20374Leu. This variant has been reported to be associated with electrocardiographic QT interval in a population-based study; however, no additional studies were performed to help assess the pathogenicity of this variant (Kapoor et al. 2016. PubMed ID: 27321809). This variant is reported in 0.0083% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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