ClinVar Miner

Submissions for variant NM_139076.3(ABRAXAS1):c.477A>G (p.Gly159=)

dbSNP: rs1722491084
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001314433 SCV001504967 uncertain significance not provided 2020-06-18 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with ABRAXAS1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 159 of the ABRAXAS1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ABRAXAS1 protein.
Ambry Genetics RCV004034315 SCV004098107 likely benign not specified 2023-06-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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