ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.929C>T (p.Ala310Val)

gnomAD frequency: 0.00004  dbSNP: rs201658390
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756396 SCV001985132 uncertain significance not provided 2021-01-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002538740 SCV003282074 uncertain significance HNSHA due to aldolase A deficiency 2022-05-10 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 256 of the ALDOA protein (p.Ala256Val). This variant is present in population databases (rs201658390, 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: 1302897). 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.
Breakthrough Genomics, Breakthrough Genomics RCV001756396 SCV005194311 uncertain significance not provided criteria provided, single submitter not provided

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