ClinVar Miner

Submissions for variant NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) (rs77718928)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169047 SCV000220205 likely pathogenic Hereditary fructosuria 2014-03-28 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000598061 SCV000708361 pathogenic not provided 2017-05-08 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000169047 SCV000746895 likely pathogenic Hereditary fructosuria 2018-03-05 criteria provided, single submitter clinical testing
Invitae RCV000169047 SCV000933103 likely pathogenic Hereditary fructosuria 2018-11-07 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 338 of the ALDOB protein (p.Ala338Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs77718928, ExAC 0.08%). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual affected with hereditary fructose intolerance (PMID: 9610797). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. It has also been reported in several families with hereditary fructose intolerance (PMID: 9610797, 25595217, 18541450). This variant is also known as p.A337V in the literature. ClinVar contains an entry for this variant (Variation ID: 188739). Experimental studies have shown that this missense change disrupts ALDOB protein function (PMID: 10229688). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Baylor Genetics RCV000169047 SCV001163584 pathogenic Hereditary fructosuria criteria provided, single submitter clinical testing

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