ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.404dup (p.His135fs)

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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 RCV005132236 SCV005760328 pathogenic HNSHA due to aldolase A deficiency 2024-06-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His81Glnfs*2) in the ALDOA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALDOA are known to be pathogenic (PMID: 2825199, 14615364). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ALDOA-related conditions. For these reasons, this variant has been classified as Pathogenic.

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