ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.51185G>A (p.Ser17062Asn)

gnomAD frequency: 0.00005  dbSNP: rs876658064
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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 RCV000223385 SCV000272671 uncertain significance not specified 2015-02-05 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ser14494Asn v ariant in TTN has not been previously reported in individuals with cardiomyopath y or in large population studies. Computational prediction tools do not provide strong support for or against an impact to the protein. Serine (Ser) at position 14494 is not well conserved in evolution with 2 mammals (pika and star-nosed mo le), multiple birds, as well as several reptiles and fish species having an aspa ragine (Asn) at this position, suggesting that this change may be tolerated. In summary, while the clinical significance of the p.Ser14494Asn variant is uncerta in, the presence of the variant amino acid in multiple other species suggests th at it is more likely to be benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000223385 SCV001478691 uncertain significance not specified 2021-01-14 criteria provided, single submitter clinical testing Variant summary: TTN c.43481G>A (p.Ser14494Asn) results in a conservative amino acid change located in the A-band of the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 248358 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.43481G>A has been reported in the literature in one individual affected with HCM (Lopes_2013). This report does not provide unequivocal conclusions about association of the variant with Dilated Cardiomyopathy. Co-occurrence with a pathogenic variant has been reported (MYBPC3 c.484C>T, p.Gln162X), providing supporting evidence for a benign role. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002478776 SCV002786812 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 2021-10-14 criteria provided, single submitter clinical testing

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