ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.65629G>T (p.Ala21877Ser)

gnomAD frequency: 0.00001  dbSNP: rs72646866
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731808 SCV000859661 uncertain significance not provided 2018-02-15 criteria provided, single submitter clinical testing
GeneDx RCV000731808 SCV002504178 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV002360856 SCV002624663 uncertain significance Cardiovascular phenotype 2019-12-19 criteria provided, single submitter clinical testing The p.A12812S variant (also known as c.38434G>T), located in coding exon 140 of the TTN gene, results from a G to T substitution at nucleotide position 38434. The alanine at codon 12812 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. This alteration was identified in one individual with arrhythmogenic right ventricular cardiomyopathy (ARVC) (Taylor M et al. Circulation, 2011 Aug;124:876-85). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000731808 SCV003822302 uncertain significance not provided 2020-02-14 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029810 SCV001192593 uncertain significance Hypertrophic cardiomyopathy 9 2019-06-25 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000731808 SCV001923946 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000731808 SCV001955351 uncertain significance not provided no assertion criteria provided clinical testing

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