ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.524G>A (p.Gly175Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003019147 SCV003313039 uncertain significance HNSHA due to aldolase A deficiency 2022-07-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ALDOA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 121 of the ALDOA protein (p.Gly121Asp). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.

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