ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.542-3T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002750592 SCV003018335 uncertain significance HNSHA due to aldolase A deficiency 2022-06-29 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant has not been reported in the literature in individuals affected with ALDOA-related conditions. This variant is present in population databases (rs113090361, gnomAD 0.002%). This sequence change falls in intron 9 of the ALDOA gene. It does not directly change the encoded amino acid sequence of the ALDOA protein. It affects a nucleotide within the consensus splice site.

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