ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.67318G>A (p.Gly22440Ser)

gnomAD frequency: 0.00002  dbSNP: rs727503576
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Total submissions: 10
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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 RCV000152245 SCV000201052 uncertain significance not specified 2014-07-03 criteria provided, single submitter clinical testing The Gly19872Ser variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction tool s and conservation analysis suggest that this variant may not impact the protein , though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the GLy19872Ser variant is uncertain.
Ambry Genetics RCV002354351 SCV002621128 uncertain significance Cardiovascular phenotype 2019-07-11 criteria provided, single submitter clinical testing The p.G13375S variant (also known as c.40123G>A), located in coding exon 145 of the TTN gene, results from a G to A substitution at nucleotide position 40123. The glycine at codon 13375 is replaced by serine, an amino acid with similar properties. This variant (reported as p.G22440S, c.67318G>A) has been detected in a hypertrophic cardiomyopathy cohort; however, details were limited (Marian AJ et al. Circ. Res., 2018 Apr;122:1109-1118). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002498711 SCV002806757 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 2021-10-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147354 SCV003834884 uncertain significance Tibial muscular dystrophy 2021-02-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147352 SCV003834887 uncertain significance Hypertrophic cardiomyopathy 9 2021-02-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147356 SCV003835009 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2021-02-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147353 SCV003835018 uncertain significance Dilated cardiomyopathy 1G 2021-02-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147357 SCV003835150 uncertain significance Early-onset myopathy with fatal cardiomyopathy 2021-02-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147355 SCV003835928 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-02-05 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480066 SCV004225827 uncertain significance not provided 2022-05-17 criteria provided, single submitter clinical testing BP4, PM2

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