ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.1208C>G (p.Ala403Gly)

dbSNP: rs1261199026
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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 RCV002027391 SCV002316391 uncertain significance HNSHA due to aldolase A deficiency 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 349 of the ALDOA protein (p.Ala349Gly). 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. ClinVar contains an entry for this variant (Variation ID: 1517488). 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).

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