ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.59849G>A (p.Arg19950Gln)

gnomAD frequency: 0.00009  dbSNP: rs374914334
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000243863 SCV000318995 uncertain significance Cardiovascular phenotype 2013-10-15 criteria provided, single submitter clinical testing The p.R17382Q variant (also known as c.52145G>A) is located in coding exon 250 of theTTNgene. This alteration results from a G to A substitution at nucleotide position 52145. The arginine at codon 17382 is replaced by glutamine, an amino acid with some similar properties. ​Based on data from the NHLBI Exome Sequencing Project (ESP), the A-allele has an overall frequency of approximately0.02% (3/12072), having been observed in0.08% (3/3812)of African American alleles, and not observed in 8260 European American alleles studied.This variant was not reported in the Database of Single Nucleotide Polymorphisms (dbSNP) or the 1000 Genomes Project. Based on protein sequence alignment, this amino acid position is highly conserved in available vertebrate species.In addition, this alteration is predicted to be probably damaging by PolyPhen in silico analysis.Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.​
Labcorp Genetics (formerly Invitae), Labcorp RCV000457759 SCV000542285 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-15 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000595826 SCV000705763 uncertain significance not provided 2017-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000595826 SCV001825206 likely benign not provided 2018-08-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25417924)
Mayo Clinic Laboratories, Mayo Clinic RCV000595826 SCV005413070 uncertain significance not provided 2023-07-17 criteria provided, single submitter clinical testing

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