ClinVar Miner

Submissions for variant NM_000035.4(ALDOB):c.619G>C (p.Glu207Gln)

gnomAD frequency: 0.00046  dbSNP: rs3739721
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000299779 SCV000476062 benign Hereditary fructosuria 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000429664 SCV000529368 benign not specified 2016-08-26 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000299779 SCV001033155 benign Hereditary fructosuria 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000299779 SCV001653356 likely benign Hereditary fructosuria 2021-05-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000299779 SCV001462841 benign Hereditary fructosuria 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003950290 SCV004765993 benign ALDOB-related disorder 2020-01-28 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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