ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66582A>G (p.Glu22194=)

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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 RCV002373246 SCV002625143 uncertain significance Cardiovascular phenotype 2021-07-08 criteria provided, single submitter clinical testing The c.39387A>G variant (also known as p.E13129E), located in coding exon 143 of the TTN gene, results from an A to G substitution at nucleotide position 39387. This nucleotide substitution does not change the amino acid at codon 13129. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004534056 SCV004115762 uncertain significance TTN-related disorder 2022-11-10 criteria provided, single submitter clinical testing The TTN c.66582A>G variant is not predicted to result in an amino acid change (p.=). This variant is predicted to alter splicing based on available splicing prediction programs (Alamut Visual Plus v1.6.1). However, the use of computer prediction programs is not equivalent to functional evidence. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.037% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179446413-T-C). 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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