ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.98225G>A (p.Gly32742Asp)

gnomAD frequency: 0.00007  dbSNP: rs201850303
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000549171 SCV000643988 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-27 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000596692 SCV000709354 uncertain significance not provided 2017-06-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004701627 SCV005203971 uncertain significance not specified 2024-06-24 criteria provided, single submitter clinical testing Variant summary: TTN c.90521G>A (p.Gly30174Asp) 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 3.2e-05 in 248898 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.90521G>A 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: 467703). Based on the evidence outlined above, the variant was classified as uncertain significance.

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