ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.77816A>C (p.Asp25939Ala)

gnomAD frequency: 0.00004  dbSNP: rs397517712
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Total submissions: 4
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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 RCV000040632 SCV000064323 uncertain significance not specified 2012-10-02 criteria provided, single submitter clinical testing The Asp23371Ala variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. Computational analyses (biochemical amino ac id properties, conservation, AlignGVGD, and PolyPhen2) suggest that the variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. Additional information is needed to fully assess the cli nical significance of this variant.
Invitae RCV000526838 SCV000643703 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001574137 SCV001800898 uncertain significance not provided 2020-09-09 criteria provided, single submitter clinical testing Reported as D23371A due to the use of an alternate transcript in a 26-year-old Caucasian female with a personal and family history of DCM and myopathy, who also harbored additional cardiogenetic variants (Pugh et al., 2014); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 47362; Landrum et al., 2016); 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/loss-of-function; This variant is associated with the following publications: (PMID: 24503780)
Fulgent Genetics, Fulgent Genetics RCV002504912 SCV002814564 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 2021-08-16 criteria provided, single submitter clinical testing

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