ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.275-9C>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002579065 SCV003490329 uncertain significance HNSHA due to aldolase A deficiency 2023-06-13 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 2175229). This variant has not been reported in the literature in individuals affected with ALDOA-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change falls in intron 7 of the ALDOA gene. It does not directly change the encoded amino acid sequence of the ALDOA protein.
PreventionGenetics, part of Exact Sciences RCV004747208 SCV005360158 uncertain significance ALDOA-related disorder 2024-07-25 no assertion criteria provided clinical testing The ALDOA c.113-9C>G variant is predicted to interfere with splicing. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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