ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.1134G>A (p.Ala378=)

gnomAD frequency: 0.00001  dbSNP: rs530089317
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000349193 SCV000396458 uncertain significance HNSHA due to aldolase A deficiency 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000429530 SCV000533218 likely benign not specified 2016-11-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000349193 SCV002469522 likely benign HNSHA due to aldolase A deficiency 2024-10-22 criteria provided, single submitter clinical testing

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