ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.25564G>A (p.Asp8522Asn)

gnomAD frequency: 0.00014  dbSNP: rs199619070
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Total submissions: 5
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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 RCV000040031 SCV000063722 uncertain significance not specified 2011-12-01 criteria provided, single submitter clinical testing The Asp7278Asn variant (TTN) has not been reported in the literature but has bee n identified by our laboratory in 1 individual with ARVC who also carried a like ly pathogenic variant in the PKP2 gene. Aspartic acid (Asp) at position 7278) is moderately conserved in evolution, which does not argue strongly for or against a pathogenic role. Computational predictions are unavailable. In summary, addi tional data is needed to determine the clinical significance of this variant.
Invitae RCV000473874 SCV000542596 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-06-12 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726850 SCV000703616 uncertain significance not provided 2018-06-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496642 SCV002814171 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 2021-10-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000726850 SCV003823592 uncertain significance not provided 2022-10-20 criteria provided, single submitter clinical testing

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