ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.520A>G (p.Asn174Asp)

gnomAD frequency: 0.00001  dbSNP: rs775705038
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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 RCV001915670 SCV002181344 uncertain significance HNSHA due to aldolase A deficiency 2021-04-19 criteria provided, single submitter clinical testing This variant is present in population databases (rs775705038, ExAC 0.01%). 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with ALDOA-related conditions. This sequence change replaces asparagine with aspartic acid at codon 120 of the ALDOA protein (p.Asn120Asp). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and aspartic acid.

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