ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.299C>T (p.Ser100Phe)

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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 RCV002801749 SCV003202583 uncertain significance HNSHA due to aldolase A deficiency 2023-06-09 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1996033). 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. 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 disruptive. 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 serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 46 of the ALDOA protein (p.Ser46Phe).

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