ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.47242A>C (p.Asn15748His)

gnomAD frequency: 0.00009  dbSNP: rs368988689
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723600 SCV000114399 uncertain significance not provided 2013-03-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154941 SCV000204623 uncertain significance not specified 2013-05-03 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Asn13180His var iant in TTN has not been reported in individuals with cardiomyopathy, but has be en identified in 3/3806 African American chromosomes by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS/). Asparagine (Asn) at position 13 180 is poorly conserved in evolution, including in mammals, suggesting that a ch ange at this position would be tolerated. Other computational analyses (biochemi cal amino acid properties, AlignGVGD, PolyPhen2, and SIFT) also suggest that thi s variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. The presence of the variant in the general pop ulation and poor evolutionary conservation suggest that the Asn13180His variant may be benign; however, additional studies are needed to fully assess its clinic al significance.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000154941 SCV002041806 uncertain significance not specified 2021-11-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415582 SCV002718683 likely benign Cardiovascular phenotype 2020-03-12 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.
Revvity Omics, Revvity RCV000723600 SCV003820239 uncertain significance not provided 2022-03-07 criteria provided, single submitter clinical testing

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