ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44366A>G (p.Tyr14789Cys)

gnomAD frequency: 0.00003  dbSNP: rs397517577
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Total submissions: 6
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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 RCV000040247 SCV000063938 uncertain significance not specified 2013-03-06 criteria provided, single submitter clinical testing The Tyr12221Cys variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant has also not been identified in large and broad European American and African American populations by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS), though it may be c ommon in other populations. Computational analyses (biochemical amino acid prope rties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that this variant m ay impact the protein, though this information is not predictive enough to deter mine pathogenicity. Additional information is needed to fully assess its clinica l significance.
Eurofins Ntd Llc (ga) RCV000724175 SCV000226859 uncertain significance not provided 2017-08-23 criteria provided, single submitter clinical testing
Invitae RCV000643641 SCV000765328 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-07 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769012 SCV000900385 uncertain significance Cardiomyopathy 2015-09-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399390 SCV002713589 uncertain significance Cardiovascular phenotype 2020-01-17 criteria provided, single submitter clinical testing The p.Y5724C variant (also known as c.17171A>G), located in coding exon 67 of the TTN gene, results from an A to G substitution at nucleotide position 17171. The tyrosine at codon 5724 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002490560 SCV002779814 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 2021-08-31 criteria provided, single submitter clinical testing

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