ClinVar Miner

Submissions for variant NM_000035.4(ALDOB):c.264C>A (p.Asp88Glu) (rs200585150)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725650 SCV000338368 uncertain significance not provided 2017-10-12 criteria provided, single submitter clinical testing
GeneDx RCV000725650 SCV000512016 uncertain significance not provided 2016-08-29 criteria provided, single submitter clinical testing The D88E variant in the ALDOB gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. The D88E variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project; however, the D88E variant was observed in the Exome Aggregation Consortium (ExAC) data set on 0.39% of alleles (60/16512) from individuals of South Asian background, including one homozygous individual, indicating it may be a rare benign variant in this population. The D88E variant is a conservative amino acid substitution, which occurs at a position that is conserved among mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Based on review of the current data in the context of the 2015 ACMG standards and guidelines for the interpretation of sequence variants (Richards et al., 2015), we now interpret D88E as a variant of uncertain significance.
Counsyl RCV000674895 SCV000800305 uncertain significance Hereditary fructosuria 2018-05-31 criteria provided, single submitter clinical testing
Invitae RCV000725650 SCV001069920 likely benign not provided 2019-02-26 criteria provided, single submitter clinical testing

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