ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.89552C>A (p.Ala29851Asp)

gnomAD frequency: 0.00001  dbSNP: rs774885355
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617857 SCV000735563 likely benign Cardiovascular phenotype 2020-08-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV000765547 SCV000896862 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 2018-10-31 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002261131 SCV002541923 uncertain significance not provided 2021-06-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003411463 SCV004106426 uncertain significance TTN-related condition 2023-05-03 criteria provided, single submitter clinical testing The TTN c.89552C>A variant is predicted to result in the amino acid substitution p.Ala29851Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0066% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179418075-G-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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