ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.62149A>G (p.Arg20717Gly)

gnomAD frequency: 0.00006  dbSNP: rs75458912
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001081284 SCV000643479 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-12-02 criteria provided, single submitter clinical testing
GeneDx RCV000714064 SCV000724972 likely benign not provided 2019-06-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000714064 SCV000844731 likely benign not provided 2018-03-28 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001171291 SCV001334014 benign Cardiomyopathy 2018-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840664 SCV002101076 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840665 SCV002101077 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840666 SCV002101078 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840663 SCV002101079 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586778 SCV005077477 benign not specified 2024-04-04 criteria provided, single submitter clinical testing Variant summary: TTN c.54445A>G (p.Arg18149Gly) results in a non-conservative amino acid change located in the A-band region of the encoded protein sequence. Three of four in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.0001 in 1606474 control chromosomes, predominantly at a frequency of 0.0034 within the East Asian subpopulation in the gnomAD database, including 1 homozygote. In addition, the variant was also reported in 1 homozygote in healthy Japanese individuals in the jMorp database [PMID: 33179747]. The relatively high allele frequency in East Asians, together with the occurrences in homozygotes suggests that the variant could be a benign polymorphism. To our knowledge, no occurrence of c.54445A>G in individuals affected with Limb-Girdle Muscular Dystrophy, Type 2J and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 467346). Based on the evidence outlined above, the variant was as benign.

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