ClinVar Miner

Submissions for variant NM_000371.3(TTR):c.370C>T (p.Arg124Cys) (rs745834030)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461445 SCV000541953 uncertain significance Amyloidogenic transthyretin amyloidosis 2019-11-11 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 124 of the TTR protein (p.Arg124Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs745834030, ExAC 0.02%). This variant has been observed in individual(s) with cardiac amyloidosis (PMID: 31371117). ClinVar contains an entry for this variant (Variation ID: 404412). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Athena Diagnostics Inc RCV000516687 SCV000616218 uncertain significance not specified 2016-11-30 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770561 SCV000902009 uncertain significance Cardiomyopathy 2019-04-11 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000788430 SCV000927538 uncertain significance not provided 2018-02-19 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852478 SCV000995172 uncertain significance Brugada syndrome 2019-01-17 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173298 SCV001336382 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV001256815 SCV001433272 uncertain significance Conduction disorder of the heart 2019-10-22 criteria provided, single submitter clinical testing

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