ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.898C>T (p.His300Tyr)

gnomAD frequency: 0.00016  dbSNP: rs144693278
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755806 SCV000883387 uncertain significance not provided 2018-02-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001343491 SCV001537478 uncertain significance HNSHA due to aldolase A deficiency 2022-08-11 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 246 of the ALDOA protein (p.His246Tyr). This variant is present in population databases (rs144693278, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ALDOA-related conditions. ClinVar contains an entry for this variant (Variation ID: 617972). 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. 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.
CeGaT Center for Human Genetics Tuebingen RCV000755806 SCV004146221 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing ALDOA: PM2, BP4
Mayo Clinic Laboratories, Mayo Clinic RCV000755806 SCV004227555 uncertain significance not provided 2022-08-25 criteria provided, single submitter clinical testing BP4
Revvity Omics, Revvity RCV001343491 SCV004239002 uncertain significance HNSHA due to aldolase A deficiency 2023-08-01 criteria provided, single submitter clinical testing

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