ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.322G>A (p.Glu108Lys)

gnomAD frequency: 0.00001  dbSNP: rs199852002
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002227356 SCV002506236 uncertain significance HNSHA due to aldolase A deficiency 2022-01-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002227356 SCV003453492 uncertain significance HNSHA due to aldolase A deficiency 2023-12-21 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 54 of the ALDOA protein (p.Glu54Lys). This variant is present in population databases (rs199852002, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with ALDOA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1679477). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
Mayo Clinic Laboratories, Mayo Clinic RCV004793745 SCV005411288 uncertain significance not provided 2024-09-19 criteria provided, single submitter clinical testing PM2

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