ClinVar Miner

Submissions for variant NM_000371.3(TTR):c.355G>A (p.Asp119Asn) (rs76410435)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159416 SCV000209362 likely benign not specified 2013-06-18 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.
Invitae RCV000697928 SCV000826562 uncertain significance Amyloidogenic transthyretin amyloidosis 2019-11-11 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 119 of the TTR protein (p.Asp119Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs76410435, ExAC 0.02%). This variant has not been reported in the literature in individuals with TTR-related disease. ClinVar contains an entry for this variant (Variation ID: 181690). 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 tolerated, 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756859 SCV000884816 likely benign not provided 2017-12-20 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000697928 SCV001283900 likely benign Amyloidogenic transthyretin amyloidosis 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173299 SCV001336383 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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