ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.29078C>T (p.Ala9693Val)

gnomAD frequency: 0.00001  dbSNP: rs767793508
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727833 SCV000855263 uncertain significance not provided 2018-06-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987681 SCV004804015 uncertain significance not specified 2024-01-30 criteria provided, single submitter clinical testing Variant summary: TTN c.25346C>T (p.Ala8449Val) results in a non-conservative amino acid change located in the I-band of the encoded protein sequence. Two of three in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4.1e-06 in 245218 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.25346C>T 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: 592936). Based on the evidence outlined above, the variant was classified as uncertain significance.

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