ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.67487A>G (p.Lys22496Arg)

gnomAD frequency: 0.00002  dbSNP: rs397517669
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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 RCV000040521 SCV000064212 uncertain significance not specified 2012-02-13 criteria provided, single submitter clinical testing The Lys19928Arg variant (TTN) has not been reported in the literature nor previo usly identified by our laboratory. Lysine (Lys) at position 19928 is highly cons erved in mammals and across evolutionarily distant species, though computational analyses (biochemical amino acid properties, AlignGVGD, and SIFT) do not provid e strong support for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of the Lys19928Arg variant.
Baylor Genetics RCV001329658 SCV001521154 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2J 2020-04-12 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000040521 SCV002572447 uncertain significance not specified 2024-10-16 criteria provided, single submitter clinical testing Variant summary: TTN c.59783A>G (p.Lys19928Arg) results in a conservative amino acid change located in the A-band region, Fibronectin type-III domain of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.6e-05 in 248088 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.59783A>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: 47251). Based on the evidence outlined above, the variant was classified as uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002477122 SCV002793248 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 2021-11-09 criteria provided, single submitter clinical testing

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