ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.821A>G (p.His274Arg)

gnomAD frequency: 0.00001  dbSNP: rs760807537
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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 RCV001941233 SCV002207890 uncertain significance HNSHA due to aldolase A deficiency 2022-07-22 criteria provided, single submitter clinical testing This variant is present in population databases (rs760807537, gnomAD 0.003%). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 220 of the ALDOA protein (p.His220Arg). This variant has not been reported in the literature in individuals affected with ALDOA-related conditions. 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1432377).

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