ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.42046G>A (p.Gly14016Ser)

dbSNP: rs367751077
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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 RCV004017435 SCV000205927 uncertain significance not provided 2023-04-12 criteria provided, single submitter clinical testing The p.Gly11448Ser variant in TTN has not been previously reported in the literature in individuals with cardiomyopathy but has been identified by other clinical laboratories in ClinVar (Variation ID 179422). This variant has also been identified in 0.0029% (2/68000) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org, v.3.1.2). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting.
Invitae RCV000460348 SCV000543021 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-08-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765575 SCV000896890 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-08-17 criteria provided, single submitter clinical testing

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