ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.65047C>A (p.Pro21683Thr)

gnomAD frequency: 0.00004  dbSNP: rs528707403
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000733604 SCV000237424 likely benign not provided 2019-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619601 SCV000737101 uncertain significance Cardiovascular phenotype 2016-06-13 criteria provided, single submitter clinical testing The p.P12618T variant (also known as c.37852C>A), located in coding exon 138 of the TTN gene, results from a C to A substitution at nucleotide position 37852. The proline at codon 12618 is replaced by threonine, an amino acid with highly similar properties. This alteration is located in the A-band region of the N2-B isoform of the titin protein. This variant was previously reported in the SNPDatabase as rs528707403. Based on data from ExAC, the A allele has an overall frequency of < 0.01% (1/105087). In the NHLBI Exome Sequencing Project (ESP) database, this variant was not observed in 6011 samples (12022 alleles) with coverage at this position. This amino acid position is highly 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 variant remains unclear.
Eurofins Ntd Llc (ga) RCV000733604 SCV000861692 uncertain significance not provided 2018-06-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000733604 SCV003821688 uncertain significance not provided 2021-06-30 criteria provided, single submitter clinical testing

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