ClinVar Miner

Submissions for variant NM_000371.4(TTR):c.439G>T (p.Glu147Ter)

gnomAD frequency: 0.00002  dbSNP: rs730881162
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159417 SCV000209363 likely benign not specified 2011-07-26 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.
Ambry Genetics RCV002326913 SCV002633317 uncertain significance Cardiovascular phenotype 2022-01-04 criteria provided, single submitter clinical testing The p.E147* variant (also known as c.439G>T), located in coding exon 4 of the TTR gene, results from a G to T substitution at nucleotide position 439. This changes the amino acid from a glutamic acid to a stop codon within coding exon 4. This alteration is expected to result in premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of TTR has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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