ClinVar Miner

Submissions for variant NM_001195248.2(APTX):c.513G>A (p.Leu171=) (rs140888559)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000242502 SCV000316587 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000242502 SCV000512093 benign not specified 2015-06-04 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000755827 SCV000883414 likely benign not provided 2018-06-19 criteria provided, single submitter clinical testing The c.513G>A variant (rs140888559; ClinVar Variation ID: 262911) has not been reported in the medical literature in association with disease. This variant does not alter amino acid sequence of APTX protein, affects a weakly conserved nucleotide, and computational analyses (Alamut v.2.11) predict that this variant does not alter splicing. This variant is rare in the general population and is found with an overall allele frequency of 0.03% (90/271,614 alleles) in the Genome Aggregation Database. Based on available information, this variant is considered to be likely benign.
Athena Diagnostics Inc RCV000755827 SCV001143039 likely benign not provided 2019-04-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001165625 SCV001327836 uncertain significance Ataxia-oculomotor apraxia type 1 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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