ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.95372G>A (p.Gly31791Asp)

dbSNP: rs869320744
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000326796 SCV000333895 uncertain significance not provided 2015-08-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001383197 SCV001582273 pathogenic Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-11-11 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 31791 of the TTN protein (p.Gly31791Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with hereditary myopathy with early respiratory failure (PMID: 23514108, 25253871). It has also been observed to segregate with disease in related individuals. This variant is also known as p.Gly30150Asp. ClinVar contains an entry for this variant (Variation ID: 132139). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant is located in the A band of TTN (PMID: 25589632). Variants in this region may be relevant for cardiac or neuromuscular disorders (PMID: 25589632, 23975875). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000326796 SCV001786069 likely pathogenic not provided 2019-07-19 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 32403337, 24575448, 23514108)
Revvity Omics, Revvity RCV000326796 SCV003822171 likely pathogenic not provided 2023-08-02 criteria provided, single submitter clinical testing

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