ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.79785C>T (p.Asp26595=)

dbSNP: rs1553587704
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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 RCV000643635 SCV000765322 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-08-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987640 SCV004804080 likely benign not specified 2024-01-31 criteria provided, single submitter clinical testing Variant summary: TTN c.72081C>T alters a conserved nucleotide resulting in a synonymous change. The variant was absent in 248720 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.72081C>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: 535580). Based on the evidence outlined above, the variant was classified as likely benign.
Ambry Genetics RCV004678784 SCV005173496 likely benign Cardiovascular phenotype 2024-04-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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