ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15148G>T (p.Gly5050Trp)

gnomAD frequency: 0.00005  dbSNP: rs908686601
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000993390 SCV001146324 uncertain significance not provided 2018-11-19 criteria provided, single submitter clinical testing
GeneDx RCV000993390 SCV001988673 uncertain significance not provided 2019-04-25 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants are truncating; Has not been previously published as pathogenic or benign to our knowledge
New York Genome Center RCV003227883 SCV003925107 uncertain significance Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9 2022-05-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004544993 SCV004780308 uncertain significance TTN-related disorder 2023-10-27 no assertion criteria provided clinical testing The TTN c.15148G>T variant is predicted to result in the amino acid substitution p.Gly5050Trp. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. 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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