ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.937C>T (p.Arg313Cys)

gnomAD frequency: 0.00001  dbSNP: rs779421883
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001935594 SCV002190393 uncertain significance HNSHA due to aldolase A deficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 259 of the ALDOA protein (p.Arg259Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs779421883, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with ALDOA-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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.
Revvity Omics, Revvity RCV001935594 SCV003823164 uncertain significance HNSHA due to aldolase A deficiency 2022-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004631824 SCV005128775 uncertain significance Inborn genetic diseases 2024-05-02 criteria provided, single submitter clinical testing The c.775C>T (p.R259C) alteration is located in exon 12 (coding exon 6) of the ALDOA gene. This alteration results from a C to T substitution at nucleotide position 775, causing the arginine (R) at amino acid position 259 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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