Submissions for variant NM_001243177.4(ALDOA):c.226C>T (p.Arg76Cys)

gnomAD frequency: 0.00003  dbSNP: rs145582724

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000315989	SCV000396446	uncertain significance	HNSHA due to aldolase A deficiency	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000315989	SCV003297553	uncertain significance	HNSHA due to aldolase A deficiency	2022-08-22	criteria provided, single submitter	clinical testing	This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 22 of the ALDOA protein (p.Arg22Cys). This variant is present in population databases (rs145582724, gnomAD 0.1%). 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: 318826). 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.
Clinical Genetics Laboratory, Skane University Hospital Lund	RCV004696903	SCV005199513	uncertain significance	not provided	2022-08-23	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV004696903	SCV005411287	uncertain significance	not provided	2023-12-27	criteria provided, single submitter	clinical testing