ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.289C>T (p.Arg97Trp)

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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 RCV002958906 SCV003281908 uncertain significance HNSHA due to aldolase A deficiency 2023-08-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 43 of the ALDOA protein (p.Arg43Trp). 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 2069747). This variant has not been reported in the literature in individuals affected with ALDOA-related conditions. This variant is present in population databases (rs757047929, gnomAD 0.006%).

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