ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.28055T>C (p.Leu9352Ser) (rs776487201)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247051 SCV000319202 uncertain significance Cardiovascular phenotype 2013-11-04 criteria provided, single submitter clinical testing The p.L8108S variant (also known as c.24323T>C) is located in coding exon 93 of the TTNgene. This alteration results from a T to C substitution at nucleotide position 24323. The leucine at codon 8108 is replaced by serine, an amino acid with dissimilar properties.This variant was not reported in population-based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), the 1000 Genomes Project and the NHLBI Exome Sequencing Project (ESP). In the ESP, this variant was not observed in 5971 samples (11942 alleles) with coverage at this position.Based on protein sequence alignment, this amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be possibly damaging by PolyPhen in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Invitae RCV000559871 SCV000642921 likely benign not provided 2018-01-15 criteria provided, single submitter clinical testing
GeneDx RCV000603948 SCV000729439 likely benign not specified 2017-12-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001406345 SCV001608296 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-01-02 criteria provided, single submitter clinical testing

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