ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.922G>A (p.Val308Ile)

gnomAD frequency: 0.00015  dbSNP: rs142759891
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523742 SCV000618872 uncertain significance not specified 2017-07-18 criteria provided, single submitter clinical testing The V254I variant in the ALDOA gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The V254I variant is observed in 11/16490 (0.07%) alleles from individuals of South Asian background and in 13/66398 (0.02%) alleles from individuals of non-Finnish European background, in the ExAC dataset (Lek et al., 2016). The V254I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret V254I as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000696203 SCV000824755 likely benign HNSHA due to aldolase A deficiency 2025-01-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000696203 SCV003823154 uncertain significance HNSHA due to aldolase A deficiency 2022-09-13 criteria provided, single submitter clinical testing

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