ClinVar Miner

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

dbSNP: rs757047929
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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 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. 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 is present in population databases (rs757047929, gnomAD 0.006%). 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).

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