ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.4532G>A (p.Gly1511Asp)

gnomAD frequency: 0.00003  dbSNP: rs751606948
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494145 SCV000583241 uncertain significance not provided 2017-05-16 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the TTN gene. The G1511D variant has been published in association with HCM (reported as G1465D due to the use of alternate nomenclature) in a patient who also harbored an additional missense variant in the TTN gene (Lopes et al., 2013). The G1511D variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G1511D variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, this is a missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function (Stenson et al., 2014).
Fulgent Genetics, Fulgent Genetics RCV002481574 SCV002791233 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 2021-08-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000494145 SCV003819087 uncertain significance not provided 2019-11-06 criteria provided, single submitter clinical testing

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