ClinVar Miner

Submissions for variant NM_000371.3(TTR):c.386C>T (p.Ala129Val) (rs121918092)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000714133 SCV000844810 uncertain significance not provided 2017-10-30 criteria provided, single submitter clinical testing
Invitae RCV001056317 SCV001220755 uncertain significance Amyloidogenic transthyretin amyloidosis 2019-05-24 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 129 of the TTR protein (p.Ala129Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs121918092, ExAC 0.001%). This variant has been observed in a family affected with euthyroid hyperthyroxinemia (PMID: 8784093) and has been reported in an individual affected with left ventricular noncompaction; however, this individual also carried variant in RBM20 (PMID: 28798025). This variant is also known as p.Ala109Val in the literature. ClinVar contains an entry for this variant (Variation ID: 13454). This variant has been reported to have conflicting or insufficient data to determine the effect on TTR protein function (PMID: 8784093). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173297 SCV001336381 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
OMIM RCV000014396 SCV000034645 affects Dystransthyretinemic euthyroidal hyperthyroxinemia 1996-09-01 no assertion criteria provided literature only

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