ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11584C>A (p.Pro3862Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002400855 SCV002709193 uncertain significance Cardiovascular phenotype 2018-05-16 criteria provided, single submitter clinical testing The p.P3499T variant (also known as c.10495C>A), located in coding exon 44 of the TTN gene, results from a C to A substitution at nucleotide position 10495. The proline at codon 3499 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and threonine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004534086 SCV004117510 uncertain significance TTN-related disorder 2023-09-23 criteria provided, single submitter clinical testing The TTN c.11584C>A variant is predicted to result in the amino acid substitution p.Pro3862Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0027% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179606376-G-T). 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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