ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.63181C>T (p.Pro21061Ser)

gnomAD frequency: 0.00004  dbSNP: rs375401971
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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 RCV000040462 SCV000064153 uncertain significance not specified 2013-03-06 criteria provided, single submitter clinical testing The Pro18493Ser variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant has been identified in 3/3726 A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS/). Computational analyses (biochemic al amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Pro18493Ser variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, additional informa tion is needed to fully assess the clinical significance of the Pro18493Ser vari ant.
Ambry Genetics RCV000620229 SCV000737213 likely benign Cardiovascular phenotype 2020-03-23 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.
Fulgent Genetics, Fulgent Genetics RCV000765561 SCV000896876 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 2018-10-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003137567 SCV003821726 uncertain significance not provided 2021-06-21 criteria provided, single submitter clinical testing

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