ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.18832G>A (p.Gly6278Ser)

gnomAD frequency: 0.00001  dbSNP: rs397517488
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039917 SCV000063608 uncertain significance not specified 2012-01-04 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Gly5034Ser vari ant (TTN) has not been previously reported nor previously identified by our labo ratory. Glycine (Gly) at position 5034 is highly conserved across evolutionarily distant species, increasing the likelihood that a change would not be tolerated . Computational predictions on the impact to the protein are mixed (AlignGVGD, S IFT), though the accuracy of these tools is unknown. Additional information is n eeded to fully assess the clinical significance of the Gly5034Ser variant.
GeneDx RCV000039917 SCV000238261 uncertain significance not specified 2013-01-07 criteria provided, single submitter clinical testing Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in DCM panel(s).
PreventionGenetics, part of Exact Sciences RCV004534861 SCV004117157 uncertain significance TTN-related disorder 2023-05-16 criteria provided, single submitter clinical testing The TTN c.18832G>A variant is predicted to result in the amino acid substitution p.Gly6278Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.015% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179594051-C-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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